JP6383837B2 - ゲノム配列決定を使用する胎児染色体異数性の診断 - Google Patents
ゲノム配列決定を使用する胎児染色体異数性の診断 Download PDFInfo
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Description
本出願は、「核酸配列の不均衡の決定」と題された、2007年7月23日に出願された米国仮出願第60/951438号(代理人整理番号016285−005200US)からの優先権を主張し、そして当該仮出願の正規の出願であり、当該仮出願の全ての内容は、全ての目的のために参照により本明細書に援用される。
本出願はまた、「核酸配列の不均衡の決定」と題された、同時に出願された正規の出願(代理人整理番号016285−005210US)に関し、そしてその全ての内容は全ての目的のために参照により本明細書に援用される。
本発明は、異なる核酸配列間における不均衡を決定することによる、胎児染色体異数性の診断試験に一般的に関し、そしてより詳細には、トリソミー21(ダウン症候群)および他の染色体異数性を、母体試料(例えば血液)を試験することにより同定することに関する。
胎児染色体異数性は、正常ではない量(単数または複数)の染色体または染色体領域の存在から生じる。正常ではない量(単数または複数)は、異常に多いものであり得、例えば過剰な21番染色体の存在、またはトリソミー21における染色体領域の存在があり;あるいは異常に少ないものであり得、例えばターナー症候群におけるX染色体のコピーの欠損がある。
本発明の実施形態は、核酸配列の不均衡(例えば染色体の不均衡)が妊娠女性から得られる生体試料中において存在するか否かを決定するための方法、系、および装置を提供する。この決定は、生体試料中における他の臨床的に重要ではない染色体領域(バックグラウンド領域)との関連で、臨床的に重要な染色体領域の量のパラメータを使用することによってなされ得る。一つの形態において、染色体の量は、母体試料、例えば尿、血漿、血清、および他の好適な生体試料中における核酸分子の配列決定から決定される。生体試料中の核酸分子は配列決定され、その結果、ゲノム断片が配列決定される。一つ以上のカットオフ値が、例えば2つの染色体領域(または領域の組)の量の比に関して、基準量と比較した変化(すなわち、不均衡)が存在するか否かを決定するために選択される。
本明細書において使用される用語「生体試料」は、対象(例えば、妊娠女性のようなヒト)から採取される任意の試料のことであり、そして1つ以上の目的の核酸分子(単数または複数)を含む。
本発明の実施形態は、臨床的に重要な染色体領域の増加または減少(疾患状態)が、非疾患状態と比較して存在するか否かを決定するための方法、システム、および装置を提供する。この決定は、生体試料中における他の臨床的に重要ではない染色体領域(バックグラウンド領域)との関連で、臨床的に重要な染色体領域の量のパラメータを使用することによってなされ得る。生体試料における核酸分子は配列決定され、その結果ゲノム断片が配列決定され、そして当該量が当該配列決定の結果から決定され得る。例えば2つの染色体領域(または領域のセット)の量の比に関して基準量と比較した変化(すなわち不均衡)が存在するか否かを決定するために、一つ以上のカットオフ値が選択される。
図1は、本発明の実施形態に従って、妊娠女性対象から得られた生体試料中における、胎児染色体異数性の出生前診断を行うためのメソッド100のフローチャートである。
上で言及された通り、ゲノム断片のみが配列決定された。一つの態様において、検体中における核酸のプールが、数倍の範囲の代わりに100%未満の遺伝子範囲で配列決定されるときでさえ、捕獲された核酸分子の比率中において、大部分の各々の核酸種が一回のみ配列決定される。同様に、特定の染色体または染色体領域の量の不均衡は、定量的に決定され得る。すなわち、染色体または染色体領域の量の不均衡は、当該検体のマッピング可能な、他の配列決定されたタグ中における前記遺伝子座のパーセンテージ表示から推測される。
大量並行配列決定の後、配列決定されたタグの染色体の複製起点を配置するために、バイオインフォマティクス分析が行われた。この手順の後、潜在的に異数性の染色体、すなわち本研究における第21番染色体由来として同定されたタグは、全ての配列決定されたタグ、または異数性に関連しない一つ以上の染色体由来のタグと定量的に比較される。第21番染色体からの配列決定の結果と試験検体に関する他の非第21番染色体の配列決定の結果との間の関係は、当該検体が異数性またはトリソミー21胎児に関与する妊婦から得られたか否かを決定するために、上の欄において記載された方法から得られるカットオフ値と比較される。
上で言及されたように、および以下の実施例で記載されるように、ヒトゲノムの一部分のみが、正倍数体の場合とトリソミー21とを区別するために配列決定される必要がある。したがって、増大されたプールの画分のランダム配列決定に先立って配列決定されるために、核酸のプールを増大させることは可能であり、そして費用効率が高いであろう。例えば、母体血漿中における胎児DNA分子は、母体のバックグラウンドDNA分子よりも短い断片を含む(Chan et al Clin Chem 2004;50:88−92)。したがって、例えばゲル電気泳動、もしくはサイズ排除カラムによって、またはマイクロフルイディクス型手法によって、分子サイズに従って試料中における核酸配列を分画するために、当業者に既知の一つ以上の方法を使用し得る。
図2は、本発明の実施形態のランダムスクリーニングを使用する、胎児染色体異数性の出生前診断を行うためのメソッド200のフローチャートである。大量並行配列決定法のための一つの態様において、全ての染色体からの代表的なデータは、同時に生成され得る。特定の断片の複製起点は、時間に先立って選択されない。当該配列決定はランダムになされ、その後データベースサーチが、特定の断片が由来する場所を見るために行われ得る。これは、第21番染色体由来の特定の断片および第1番染色体由来の別の断片が増幅される状況と対比される。
以下の実施例IIおよびIIIにおいて記載されるように、配列決定されたデータのサブセットは、トリソミー21と正倍数体の場合とを区別するために十分である。配列決定されたデータのサブセットは、特定の品質パラメータを通過した配列決定タグの比率であり得る。例えば、実施例IIにおいて、繰り返しマスク化された基準ヒトゲノムに個別に整列された、配列決定されたタグが使用された。または、全ての染色体からの核酸断片の代表的プールを配列決定し得るが、潜在的に異数性の染色体に関連するデータと多くの非異数性染色体に関連するデータとの間の比較に重点的に取り組み得る。
I.胎児トリソミー21の出生前診断
8人の妊娠女性を当該試験のために採用した。全ての妊娠女性は、妊娠第1期または第2期であり、そして単胎妊娠であった。彼女らのうち4人は、各々トリソミー21を有する胎児を妊娠しており、そして他の4人は各々正倍数体の胎児を妊娠していた。20ミリリットルの末梢静脈血を各々の対象から回収した。母体血漿を1600xgで10分間、そしてさらに16000xgで10分間遠心分離した後に採取した。DNAをその後5〜10mLの各々の血漿試料から抽出した。Illuminaゲノムアナライザーによって、製造業者の使用説明書に従って、母体血漿DNAをその後、大量並行配列決定のために使用した。配列決定を行う技術者は、配列決定および配列データ分析の間、胎児診断を一時的に見えなくされた。
パーセンテージ差(%)=(P21−PE)/PEx100%
ここでP21は、トリソミー21胎児を宿す妊娠女性における特定の染色体に整列された血漿DNA配列のパーセンテージであり;そして
PEは、正倍数体胎児を宿す妊娠女性における特定の染色体に整列された血漿DNA配列のパーセンテージである。
上の実施例Iに記載された実験において、各々の個体の検体からの母体血漿DNAを、一つのフローセルのみを使用して配列決定した。配列決定の実施によって、試験された検体の各々から生じた、配列決定されたタグの数を図6に示す。T21は、トリソミー21胎児に関連する妊婦から得られた試料を示す。
正倍数体男性胎児を宿す妊娠女性からの血漿DNAの配列決定の結果を、本分析のために使用した。基準ヒトゲノム配列におけるミスマッチなしで位置付けられた配列決定されたタグの数は、1,990,000個であった。配列のサブセットを、これらの1,990,000個のタグからランダムに選択し、そして第21番染色体に整列された配列のパーセンテージを個々のサブセット内で計算した。当該サブセット中における配列数は、60,000〜540,000配列で変化された。個々のサブセットの数に関して、同数の配列決定されたタグの複数のサブセットを、全プールからの配列決定されたタグのランダム選択によって、他の組み合わせが可能でなくなるまで編集した。第21番染色体に整列された配列の平均パーセンテージおよびその標準偏差(SD)をその後、個々のサブセットサイズ内における複数のサブセットから計算した。第21番染色体に整列された配列のパーセンテージ分布におけるサブセットサイズの効果を決定するために、これらのデータを、異なるサブセットサイズ間で比較した。パーセンテージの5パーセンタイル値および95パーセンタイル値をその後、平均およびSDに従って計算した。
PerT21=PerEu×(1+f/2)
ここで、PerT21は、トリソミー21の胎児を有する女性における第21番染色体に整列された配列のパーセンテージを示し;そして
PerEuは、正倍数体胎児を有する女性における第21番染色体に整列された配列のパーセンテージを示し、;そして
fは、母体血漿DNA中における胎児DNAパーセンテージを示す。
配列決定・ランの間、配列決定されたDNA断片がランダムに選択されることを示すために、我々は実施例Iにおいて分析された8つの母体血漿試料から生じた配列決定されたタグを得た。個々の母体由来血漿検体に関して、我々は、基準ヒトゲノム配列、NCBIアセンブリ36に関連する、ミスマッチの無い第21番染色体に一意的に整列された、36bpの配列決定されたタグの各々の開始位置を決定した。その後、我々は、各々の検体由来の、整列された配列決定されたタグのプールに関する開始位置番号を昇順で並べた。我々は、第22番染色体に対して同様の分析を実行した。説明のために、各々の母体血漿検体に関する第21番染色体および第22番染色体の上位10個の開始位置を図8Aおよび8Bにそれぞれ示す。これらの表から認められるように、DNA断片の配列決定されたプールは、試料間で同一ではなかった。
Claims (11)
- 1人の胎児を宿す女性対象から得られた生体試料において、胎児染色体異数性が存在するか否かを決定するための方法であって、
ここで前記生体試料は母体の血漿であり、かつ前記女性対象のゲノム由来の無細胞核酸分子、及び前記1人の胎児のゲノム由来の無細胞核酸分子を含み、
以下のステップ:
前記生体試料を入手し;
前記生体試料に含まれる、前記女性対象のゲノム由来の無細胞核酸分子及び前記1人の胎児のゲノム由来の無細胞核酸分子のランダム配列決定をおこなって、配列決定されたタグを取得し、ここで、前記配列決定されたタグは、前記女性対象のゲノム由来の無細胞核酸分子に相当する配列決定されたタグと、前記1人の胎児のゲノム由来の無細胞核酸分子に相当する配列決定されたタグとを含み;
前記配列決定されたタグの少なくとも一部分をヒトゲノムに整列させ;
ヒトゲノムの第一の染色体に整列し、かつヒトゲノムの1つ以上の第二の染色体に整列しないものとして同定された、配列決定されたタグの第一の量を決定し;
前記1つ以上の第二の染色体に整列し、かつ前記第一の染色体に整列しないものとして同定された、配列決定されたタグの第二の量を決定し、
前記第一の量および前記第二の量を用いて、前記第一の染色体に整列するものとして同定された、配列決定されたタグの割合表示を決定し、ここで前記割合表示は、生体試料中における前記第一の染色体由来の無細胞核酸分子の比率の尺度であり;
前記割合表示を、1つ以上のカットオフ値と比較し;そして
胎児染色体異数性が前記第一の染色体において存在するか否かの分類を決定すること
を含み、
ここで、前記第一の量は、前記第一の染色体に整列し、かつ前記1つ以上の第二の染色体に整列しないものとして同定された、配列決定されたタグの総数又は総長さであり;
前記第二の量は、前記1つ以上の第二の染色体に整列し、かつ前記第一の染色体に整列しないものとして同定された、配列決定されたタグの総数又は総長さであり、そして
前記第一の染色体は、第21番染色体、第18番染色体、第13番染色体、X染色体、またはY染色体である、前記方法。 - 前記第一の染色体に整列し、かつ前記1つ以上の第二の染色体に整列しないものとして同定された、配列決定されたタグが、300bpよりも少ない、請求項1に記載の方法。
- 前記第一の染色体に整列し、かつ前記1つ以上の第二の染色体に整列しないものとして同定された、配列決定されたタグが、200bpよりも少ない、請求項1に記載の方法。
- 前記第一の染色体に整列し、かつ前記1つ以上の第二の染色体に整列しないものとして同定された、配列決定されたタグが、100bpよりも少ない、請求項1に記載の方法。
- 前記生体試料の無細胞核酸分子が、少なくとも一つの特定の染色体由来である配列について増大されている、請求項1に記載の方法。
- 前記生体試料の無細胞核酸分子は、300bp未満である配列について増大されている、請求項1に記載の方法。
- 前記生体試料の無細胞核酸分子は、200bp未満である配列について増大されている、請求項1に記載の方法。
- ランダム配列決定によって配列決定された核酸分子が、ヒトゲノムの少なくとも0.1%である、請求項1に記載の方法。
- ランダム配列決定によって配列決定された核酸分子が、ヒトゲノムの少なくとも0.5%である、請求項1に記載の方法。
- 前記カットオフ値は、正常な生体試料において確立された基準値である、請求項1に記載の方法。
- 1人の胎児を宿す女性対象から得られた生体試料における胎児染色体異数性の出生前診断を実行するための操作を行うコンピューティングシステムを制御するためのコンピュータプログラムであって、前記コンピューティングシステムが、入力装置、一つ以上のプロセッサ及び出力装置を含み、前記生体試料が母体の血漿であり、かつ前記女性対象のゲノム由来の無細胞核酸分子、及び前記1人の胎児のゲノム由来の無細胞核酸分子を含み、前記操作が以下のステップ:
前記入力装置によって、前記女性対象の生体試料中に含まれる無細胞核酸分子の一部分の、ランダム配列決定から得られる配列決定されたタグのデータを入手し;
前記プロセッサによって、前記配列決定されたタグの少なくとも一部分をヒトゲノムに整列させ;
前記プロセッサによって、ヒトゲノムの第一の染色体に整列し、かつヒトゲノムの1つ以上の第二の染色体に整列しないものとして同定された配列から、前記第一の染色体の第一の量を決定し;
前記プロセッサによって、前記1つ以上の第二の染色体に整列し、かつ前記第一の染色体に整列しないものとして同定された配列から、前記1つ以上の第二の染色体の第二の量を決定し;
前記第一の量および前記第二の量を用いて、前記プロセッサによって、前記第一の染色体に整列するものとして同定された配列の割合表示を決定し、ここで前記割合表示は、生体試料中における前記第一の染色体由来の無細胞核酸分子の比率の尺度であり;
前記プロセッサによって、前記割合表示を一つ以上のカットオフ値と比較し;そして
前記出力装置によって、前記比較の結果を出力すること
を含み、ここで前記比較の結果に基づいて、胎児染色体異数性が前記第一の染色体において存在するか否かが決定され、
ここで、前記第一の量は、前記第一の染色体に整列し、かつ前記1つ以上の第二の染色体に整列しないものとして同定された、配列決定されたタグの総数又は総長さであり;
前記第二の量は、前記1つ以上の第二の染色体に整列し、かつ前記第一の染色体に整列しないものとして同定された、配列決定されたタグの総数又は総長さであり、そして
前記第一の染色体は、第21番染色体、第18番染色体、第13番染色体、X染色体、またはY染色体である、
前記コンピュータプログラム。
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Families Citing this family (273)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US20100022414A1 (en) | 2008-07-18 | 2010-01-28 | Raindance Technologies, Inc. | Droplet Libraries |
US8024128B2 (en) * | 2004-09-07 | 2011-09-20 | Gene Security Network, Inc. | System and method for improving clinical decisions by aggregating, validating and analysing genetic and phenotypic data |
ATE406463T1 (de) | 2005-04-06 | 2008-09-15 | Maurice Stroun | Methode zur krebsdiagnose mittels nachweis von dna und rna im kreislauf |
EP2477029A1 (en) * | 2005-06-02 | 2012-07-18 | Fluidigm Corporation | Analysis using microfluidic partitioning devices |
US11111543B2 (en) | 2005-07-29 | 2021-09-07 | Natera, Inc. | System and method for cleaning noisy genetic data and determining chromosome copy number |
US20070178501A1 (en) * | 2005-12-06 | 2007-08-02 | Matthew Rabinowitz | System and method for integrating and validating genotypic, phenotypic and medical information into a database according to a standardized ontology |
US20070027636A1 (en) * | 2005-07-29 | 2007-02-01 | Matthew Rabinowitz | System and method for using genetic, phentoypic and clinical data to make predictions for clinical or lifestyle decisions |
US10081839B2 (en) * | 2005-07-29 | 2018-09-25 | Natera, Inc | System and method for cleaning noisy genetic data and determining chromosome copy number |
US8515679B2 (en) | 2005-12-06 | 2013-08-20 | Natera, Inc. | System and method for cleaning noisy genetic data and determining chromosome copy number |
US10083273B2 (en) * | 2005-07-29 | 2018-09-25 | Natera, Inc. | System and method for cleaning noisy genetic data and determining chromosome copy number |
US9424392B2 (en) | 2005-11-26 | 2016-08-23 | Natera, Inc. | System and method for cleaning noisy genetic data from target individuals using genetic data from genetically related individuals |
US11111544B2 (en) | 2005-07-29 | 2021-09-07 | Natera, Inc. | System and method for cleaning noisy genetic data and determining chromosome copy number |
US8532930B2 (en) | 2005-11-26 | 2013-09-10 | Natera, Inc. | Method for determining the number of copies of a chromosome in the genome of a target individual using genetic data from genetically related individuals |
ES2739484T3 (es) * | 2006-02-02 | 2020-01-31 | Univ Leland Stanford Junior | Prueba genética fetal no invasiva mediante análisis digital |
US20080050739A1 (en) * | 2006-06-14 | 2008-02-28 | Roland Stoughton | Diagnosis of fetal abnormalities using polymorphisms including short tandem repeats |
EP2589668A1 (en) | 2006-06-14 | 2013-05-08 | Verinata Health, Inc | Rare cell analysis using sample splitting and DNA tags |
US8137912B2 (en) * | 2006-06-14 | 2012-03-20 | The General Hospital Corporation | Methods for the diagnosis of fetal abnormalities |
US20080070792A1 (en) | 2006-06-14 | 2008-03-20 | Roland Stoughton | Use of highly parallel snp genotyping for fetal diagnosis |
US20100112590A1 (en) | 2007-07-23 | 2010-05-06 | The Chinese University Of Hong Kong | Diagnosing Fetal Chromosomal Aneuploidy Using Genomic Sequencing With Enrichment |
CA2900927C (en) * | 2007-07-23 | 2018-08-14 | The Chinese University Of Hong Kong | Diagnosing fetal chromosomal aneuploidy using genomic sequencing |
US7888127B2 (en) | 2008-01-15 | 2011-02-15 | Sequenom, Inc. | Methods for reducing adduct formation for mass spectrometry analysis |
WO2009105531A1 (en) * | 2008-02-19 | 2009-08-27 | Gene Security Network, Inc. | Methods for cell genotyping |
AU2009223671B2 (en) * | 2008-03-11 | 2014-11-27 | Sequenom, Inc. | Nucleic acid-based tests for prenatal gender determination |
DE102008019132A1 (de) * | 2008-04-16 | 2009-10-22 | Olympus Life Science Research Europa Gmbh | Verfahren zur quantitativen Bestimmung der Kopienzahl einer vorbestimmten Sequenz in einer Probe |
WO2009146335A1 (en) * | 2008-05-27 | 2009-12-03 | Gene Security Network, Inc. | Methods for embryo characterization and comparison |
US12038438B2 (en) | 2008-07-18 | 2024-07-16 | Bio-Rad Laboratories, Inc. | Enzyme quantification |
ES2620431T3 (es) | 2008-08-04 | 2017-06-28 | Natera, Inc. | Métodos para la determinación de alelos y de ploidía |
GB2467691A (en) | 2008-09-05 | 2010-08-11 | Aueon Inc | Methods for stratifying and annotating cancer drug treatment options |
US8476013B2 (en) | 2008-09-16 | 2013-07-02 | Sequenom, Inc. | Processes and compositions for methylation-based acid enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses |
US8962247B2 (en) | 2008-09-16 | 2015-02-24 | Sequenom, Inc. | Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non invasive prenatal diagnoses |
CA3069082C (en) * | 2008-09-20 | 2022-03-22 | The Board Of Trustees Of The Leland Stanford Junior University | Noninvasive diagnosis of fetal aneuploidy by sequencing |
AU2015202167B2 (en) * | 2008-09-20 | 2017-12-21 | The Board Of Trustees Of The Leland Stanford Junior University | Noninvasive diagnosis of fetal aneuploidy by sequencing |
US8563242B2 (en) * | 2009-08-11 | 2013-10-22 | The Chinese University Of Hong Kong | Method for detecting chromosomal aneuploidy |
US20120185176A1 (en) | 2009-09-30 | 2012-07-19 | Natera, Inc. | Methods for Non-Invasive Prenatal Ploidy Calling |
EP2494065B1 (en) * | 2009-10-26 | 2015-12-23 | Lifecodexx AG | Means and methods for non-invasive diagnosis of chromosomal aneuploidy |
WO2011053790A2 (en) * | 2009-10-30 | 2011-05-05 | Fluidigm Corporation | Assay of closely linked targets in fetal diagnosis and coincidence detection assay for genetic analysis |
ES2720282T3 (es) | 2009-11-05 | 2019-07-19 | Univ Hong Kong Chinese | Análisis genómico fetal a partir de una muestra biológica materna |
MX357692B (es) * | 2009-11-06 | 2018-07-19 | Univ Hong Kong Chinese | Analisis genomico a base de tamaño. |
US8703652B2 (en) | 2009-11-06 | 2014-04-22 | The Board Of Trustees Of The Leland Stanford Junior University | Non-invasive diagnosis of graft rejection in organ transplant patients |
JP2013514079A (ja) * | 2009-12-17 | 2013-04-25 | キージーン・エン・フェー | 制限酵素に基づく全ゲノムシーケンシング |
ES2577017T3 (es) | 2009-12-22 | 2016-07-12 | Sequenom, Inc. | Procedimientos y kits para identificar la aneuploidia |
US9323888B2 (en) | 2010-01-19 | 2016-04-26 | Verinata Health, Inc. | Detecting and classifying copy number variation |
AU2015203579B2 (en) * | 2010-01-19 | 2017-12-21 | Verinata Health, Inc. | Sequencing methods and compositions for prenatal diagnoses |
US10388403B2 (en) | 2010-01-19 | 2019-08-20 | Verinata Health, Inc. | Analyzing copy number variation in the detection of cancer |
US20120100548A1 (en) | 2010-10-26 | 2012-04-26 | Verinata Health, Inc. | Method for determining copy number variations |
WO2011091063A1 (en) | 2010-01-19 | 2011-07-28 | Verinata Health, Inc. | Partition defined detection methods |
AU2015204302B2 (en) * | 2010-01-19 | 2017-10-05 | Verinata Health, Inc. | Method for determining copy number variations |
EP2848703A1 (en) * | 2010-01-19 | 2015-03-18 | Verinata Health, Inc | Simultaneous determination of aneuploidy and fetal fraction |
WO2011090556A1 (en) | 2010-01-19 | 2011-07-28 | Verinata Health, Inc. | Methods for determining fraction of fetal nucleic acid in maternal samples |
AU2011207544A1 (en) | 2010-01-19 | 2012-09-06 | Verinata Health, Inc. | Identification of polymorphic sequences in mixtures of genomic DNA by whole genome sequencing |
US9260745B2 (en) | 2010-01-19 | 2016-02-16 | Verinata Health, Inc. | Detecting and classifying copy number variation |
US20110312503A1 (en) | 2010-01-23 | 2011-12-22 | Artemis Health, Inc. | Methods of fetal abnormality detection |
JP2013517789A (ja) * | 2010-01-26 | 2013-05-20 | ニプド ジェネティクス リミテッド | 胎児異数性の非侵襲性出生前診断の方法および組成物 |
EP3392349A1 (en) * | 2010-02-12 | 2018-10-24 | Raindance Technologies, Inc. | Digital analyte analysis |
WO2011130880A1 (zh) * | 2010-04-23 | 2011-10-27 | 深圳华大基因科技有限公司 | 胎儿染色体非整倍性的检测方法 |
US20190010543A1 (en) | 2010-05-18 | 2019-01-10 | Natera, Inc. | Methods for simultaneous amplification of target loci |
US11326208B2 (en) | 2010-05-18 | 2022-05-10 | Natera, Inc. | Methods for nested PCR amplification of cell-free DNA |
US11322224B2 (en) | 2010-05-18 | 2022-05-03 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
US11332785B2 (en) | 2010-05-18 | 2022-05-17 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
US11332793B2 (en) | 2010-05-18 | 2022-05-17 | Natera, Inc. | Methods for simultaneous amplification of target loci |
CA3037126C (en) | 2010-05-18 | 2023-09-12 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
US11939634B2 (en) | 2010-05-18 | 2024-03-26 | Natera, Inc. | Methods for simultaneous amplification of target loci |
US11339429B2 (en) | 2010-05-18 | 2022-05-24 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
US9677118B2 (en) | 2014-04-21 | 2017-06-13 | Natera, Inc. | Methods for simultaneous amplification of target loci |
WO2013052557A2 (en) * | 2011-10-03 | 2013-04-11 | Natera, Inc. | Methods for preimplantation genetic diagnosis by sequencing |
US10316362B2 (en) | 2010-05-18 | 2019-06-11 | Natera, Inc. | Methods for simultaneous amplification of target loci |
US11408031B2 (en) | 2010-05-18 | 2022-08-09 | Natera, Inc. | Methods for non-invasive prenatal paternity testing |
CN103069006A (zh) * | 2010-07-23 | 2013-04-24 | 艾索特里克斯遗传实验室有限责任公司 | 区别表达的胚胎或母源基因组区的鉴定及其用途 |
US8700338B2 (en) | 2011-01-25 | 2014-04-15 | Ariosa Diagnosis, Inc. | Risk calculation for evaluation of fetal aneuploidy |
US10533223B2 (en) | 2010-08-06 | 2020-01-14 | Ariosa Diagnostics, Inc. | Detection of target nucleic acids using hybridization |
US11203786B2 (en) | 2010-08-06 | 2021-12-21 | Ariosa Diagnostics, Inc. | Detection of target nucleic acids using hybridization |
US11031095B2 (en) | 2010-08-06 | 2021-06-08 | Ariosa Diagnostics, Inc. | Assay systems for determination of fetal copy number variation |
US20120034603A1 (en) * | 2010-08-06 | 2012-02-09 | Tandem Diagnostics, Inc. | Ligation-based detection of genetic variants |
US20140342940A1 (en) | 2011-01-25 | 2014-11-20 | Ariosa Diagnostics, Inc. | Detection of Target Nucleic Acids using Hybridization |
US20130040375A1 (en) * | 2011-08-08 | 2013-02-14 | Tandem Diagnotics, Inc. | Assay systems for genetic analysis |
US20120077185A1 (en) * | 2010-08-06 | 2012-03-29 | Tandem Diagnostics, Inc. | Detection of genetic abnormalities and infectious disease |
US20130261003A1 (en) | 2010-08-06 | 2013-10-03 | Ariosa Diagnostics, In. | Ligation-based detection of genetic variants |
US10167508B2 (en) | 2010-08-06 | 2019-01-01 | Ariosa Diagnostics, Inc. | Detection of genetic abnormalities |
WO2012019323A1 (zh) * | 2010-08-13 | 2012-02-16 | 深圳华大基因科技有限公司 | 一种细胞染色体分析方法 |
EP2619329B1 (en) | 2010-09-24 | 2019-05-22 | The Board of Trustees of The Leland Stanford Junior University | Direct capture, amplification and sequencing of target dna using immobilized primers |
US9267174B2 (en) | 2010-10-26 | 2016-02-23 | Stanford University | Method of simultaneously screening for multiple genotypes and/or mutations |
EP4269623A3 (en) * | 2010-11-30 | 2024-03-06 | The Chinese University Of Hong Kong | Analysis of a biological sample of an organism for chromosomal deletions or amplifications associated with cancer |
CN103620055A (zh) | 2010-12-07 | 2014-03-05 | 利兰·斯坦福青年大学托管委员会 | 在全基因组规模非侵入性确定亲本单倍型的胎儿遗传 |
JP6328934B2 (ja) | 2010-12-22 | 2018-05-23 | ナテラ, インコーポレイテッド | 非侵襲性出生前親子鑑定法 |
CA2823618C (en) * | 2011-01-05 | 2022-05-24 | The Chinese University Of Hong Kong | Noninvasive prenatal genotyping of fetal sex chromosomes |
US9994897B2 (en) | 2013-03-08 | 2018-06-12 | Ariosa Diagnostics, Inc. | Non-invasive fetal sex determination |
US20120190021A1 (en) * | 2011-01-25 | 2012-07-26 | Aria Diagnostics, Inc. | Detection of genetic abnormalities |
US11270781B2 (en) | 2011-01-25 | 2022-03-08 | Ariosa Diagnostics, Inc. | Statistical analysis for non-invasive sex chromosome aneuploidy determination |
US8756020B2 (en) | 2011-01-25 | 2014-06-17 | Ariosa Diagnostics, Inc. | Enhanced risk probabilities using biomolecule estimations |
US10131947B2 (en) * | 2011-01-25 | 2018-11-20 | Ariosa Diagnostics, Inc. | Noninvasive detection of fetal aneuploidy in egg donor pregnancies |
JP6153874B2 (ja) | 2011-02-09 | 2017-06-28 | ナテラ, インコーポレイテッド | 非侵襲的出生前倍数性呼び出しのための方法 |
EP3760731A1 (en) * | 2011-02-09 | 2021-01-06 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
EP2675819B1 (en) | 2011-02-18 | 2020-04-08 | Bio-Rad Laboratories, Inc. | Compositions and methods for molecular labeling |
CA2827873C (en) * | 2011-02-24 | 2022-08-16 | The Chinese University Of Hong Kong | Molecular testing of multiple pregnancies |
EP2689029A1 (en) * | 2011-03-22 | 2014-01-29 | Life Technologies Corporation | Identification of linkage using multiplex digital pcr |
US9260753B2 (en) | 2011-03-24 | 2016-02-16 | President And Fellows Of Harvard College | Single cell nucleic acid detection and analysis |
US20150065358A1 (en) * | 2011-03-30 | 2015-03-05 | Verinata Health, Inc. | Method for verifying bioassay samples |
RS57837B1 (sr) | 2011-04-12 | 2018-12-31 | Verinata Health Inc | Razrešavanje genomskih frakcija upotrebom broja kopija polimorfizama |
GB2484764B (en) | 2011-04-14 | 2012-09-05 | Verinata Health Inc | Normalizing chromosomes for the determination and verification of common and rare chromosomal aneuploidies |
US9411937B2 (en) | 2011-04-15 | 2016-08-09 | Verinata Health, Inc. | Detecting and classifying copy number variation |
US8455221B2 (en) | 2011-04-29 | 2013-06-04 | Sequenom, Inc. | Quantification of a minority nucleic acid species |
WO2012177792A2 (en) | 2011-06-24 | 2012-12-27 | Sequenom, Inc. | Methods and processes for non-invasive assessment of a genetic variation |
SG191757A1 (en) | 2011-06-29 | 2013-08-30 | Bgi Health Service Co Ltd | Noninvasive detection of fetal genetic abnormality |
CN103797368A (zh) * | 2011-06-30 | 2014-05-14 | 新加坡国立大学 | 胎儿有核红细胞的检测 |
US20130157875A1 (en) * | 2011-07-20 | 2013-06-20 | Anthony P. Shuber | Methods for assessing genomic instabilities |
GB2485635B (en) * | 2011-07-26 | 2012-11-28 | Verinata Health Inc | Method for determining the presence or absence of different aneuploidies in a sample |
US8712697B2 (en) | 2011-09-07 | 2014-04-29 | Ariosa Diagnostics, Inc. | Determination of copy number variations using binomial probability calculations |
CN104160391A (zh) * | 2011-09-16 | 2014-11-19 | 考利达基因组股份有限公司 | 确定异质样本的基因组中的变异 |
US20140228226A1 (en) * | 2011-09-21 | 2014-08-14 | Bgi Health Service Co., Ltd. | Method and system for determining chromosome aneuploidy of single cell |
US9984198B2 (en) | 2011-10-06 | 2018-05-29 | Sequenom, Inc. | Reducing sequence read count error in assessment of complex genetic variations |
US10424394B2 (en) | 2011-10-06 | 2019-09-24 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
EP3922731A3 (en) | 2011-10-06 | 2022-01-05 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
US10196681B2 (en) | 2011-10-06 | 2019-02-05 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
US9367663B2 (en) | 2011-10-06 | 2016-06-14 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
WO2013052907A2 (en) | 2011-10-06 | 2013-04-11 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
US8688388B2 (en) | 2011-10-11 | 2014-04-01 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
EP3243908B1 (en) | 2011-10-11 | 2019-01-02 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
CN102329876B (zh) * | 2011-10-14 | 2014-04-02 | 深圳华大基因科技有限公司 | 一种测定待检测样本中疾病相关核酸分子的核苷酸序列的方法 |
ES2651612T3 (es) | 2011-10-18 | 2018-01-29 | Multiplicom Nv | Diagnóstico de aneuploidía cromosómica fetal |
WO2013062856A1 (en) | 2011-10-27 | 2013-05-02 | Verinata Health, Inc. | Set membership testers for aligning nucleic acid samples |
EP2602733A3 (en) * | 2011-12-08 | 2013-08-14 | Koninklijke Philips Electronics N.V. | Biological cell assessment using whole genome sequence and oncological therapy planning using same |
EP4148739A1 (en) | 2012-01-20 | 2023-03-15 | Sequenom, Inc. | Diagnostic processes that factor experimental conditions |
EP3757210B1 (en) | 2012-03-02 | 2022-08-24 | Sequenom, Inc. | Methods for enriching cancer nucleic acid from a biological sample |
US9892230B2 (en) * | 2012-03-08 | 2018-02-13 | The Chinese University Of Hong Kong | Size-based analysis of fetal or tumor DNA fraction in plasma |
WO2013148496A1 (en) * | 2012-03-26 | 2013-10-03 | The Johns Hopkins University | Rapid aneuploidy detection |
EP3178945B1 (en) * | 2012-04-06 | 2018-10-17 | The Chinese University Of Hong Kong | Method of analyzing a biological sample from a female subject pregnant with a fetus |
AU2013249012B2 (en) * | 2012-04-19 | 2019-03-28 | The Medical College Of Wisconsin, Inc. | Highly sensitive surveillance using detection of cell free DNA |
CN104471077B (zh) | 2012-05-21 | 2017-05-24 | 富鲁达公司 | 颗粒群的单颗粒分析 |
US10289800B2 (en) | 2012-05-21 | 2019-05-14 | Ariosa Diagnostics, Inc. | Processes for calculating phased fetal genomic sequences |
ES2902401T3 (es) | 2012-05-21 | 2022-03-28 | Sequenom Inc | Métodos y procesos para la evaluación no invasiva de variaciones genéticas |
US10504613B2 (en) | 2012-12-20 | 2019-12-10 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
US9920361B2 (en) | 2012-05-21 | 2018-03-20 | Sequenom, Inc. | Methods and compositions for analyzing nucleic acid |
US11261494B2 (en) * | 2012-06-21 | 2022-03-01 | The Chinese University Of Hong Kong | Method of measuring a fractional concentration of tumor DNA |
US10497461B2 (en) | 2012-06-22 | 2019-12-03 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
CA2878979C (en) | 2012-07-13 | 2021-09-14 | Sequenom, Inc. | Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses |
WO2014015269A1 (en) | 2012-07-19 | 2014-01-23 | Ariosa Diagnostics, Inc. | Multiplexed sequential ligation-based detection of genetic variants |
KR102393608B1 (ko) | 2012-09-04 | 2022-05-03 | 가던트 헬쓰, 인크. | 희귀 돌연변이 및 카피수 변이를 검출하기 위한 시스템 및 방법 |
US10876152B2 (en) | 2012-09-04 | 2020-12-29 | Guardant Health, Inc. | Systems and methods to detect rare mutations and copy number variation |
US20160040229A1 (en) | 2013-08-16 | 2016-02-11 | Guardant Health, Inc. | Systems and methods to detect rare mutations and copy number variation |
US11913065B2 (en) | 2012-09-04 | 2024-02-27 | Guardent Health, Inc. | Systems and methods to detect rare mutations and copy number variation |
DK3536807T3 (da) | 2012-09-20 | 2024-02-05 | Univ Hong Kong Chinese | Ikkeinvasiv bestemmelse af foster- eller tumormethylom fra plasma |
US9732390B2 (en) | 2012-09-20 | 2017-08-15 | The Chinese University Of Hong Kong | Non-invasive determination of methylome of fetus or tumor from plasma |
US10706957B2 (en) | 2012-09-20 | 2020-07-07 | The Chinese University Of Hong Kong | Non-invasive determination of methylome of tumor from plasma |
SG11201502390QA (en) * | 2012-09-26 | 2015-05-28 | Agency Science Tech & Res | Biomarkers for down syndrome prenatal diagnosis |
CA3120521A1 (en) | 2012-10-04 | 2014-04-10 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
US10482994B2 (en) | 2012-10-04 | 2019-11-19 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
EP2728014B1 (en) * | 2012-10-31 | 2015-10-07 | Genesupport SA | Non-invasive method for detecting a fetal chromosomal aneuploidy |
US10643738B2 (en) | 2013-01-10 | 2020-05-05 | The Chinese University Of Hong Kong | Noninvasive prenatal molecular karyotyping from maternal plasma |
US20130309666A1 (en) | 2013-01-25 | 2013-11-21 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
JP6542676B2 (ja) * | 2013-02-20 | 2019-07-10 | バイオナノ ジェノミクス、 インコーポレイテッド | ナノフルイディクスにおける分子の特性解析 |
EP3351643B1 (en) * | 2013-02-28 | 2019-09-18 | The Chinese University Of Hong Kong | Maternal plasma transcriptome analysis by massively parallel rna sequencing |
WO2014133369A1 (ko) * | 2013-02-28 | 2014-09-04 | 주식회사 테라젠이텍스 | 유전체 서열분석을 이용한 태아 염색체 이수성의 진단 방법 및 장치 |
US20130189684A1 (en) | 2013-03-12 | 2013-07-25 | Sequenom, Inc. | Quantification of cell-specific nucleic acid markers |
US9305756B2 (en) | 2013-03-13 | 2016-04-05 | Agena Bioscience, Inc. | Preparation enhancements and methods of use for MALDI mass spectrometry |
EP2971100A1 (en) | 2013-03-13 | 2016-01-20 | Sequenom, Inc. | Primers for dna methylation analysis |
TWI637058B (zh) | 2013-03-15 | 2018-10-01 | 香港中文大學 | 測定多胞胎妊娠之胎兒基因組 |
FI2981921T3 (fi) | 2013-04-03 | 2023-03-09 | Sequenom Inc | Menetelmiä ja prosesseja geneettisten variaatioiden ei-invasiiviseen arviointiin |
US20140336055A1 (en) | 2013-05-07 | 2014-11-13 | Sequenom, Inc. | Genetic markers for macular degeneration disorder treatment |
KR102665592B1 (ko) | 2013-05-24 | 2024-05-21 | 시쿼넘, 인코포레이티드 | 유전적 변이의 비침습 평가를 위한 방법 및 프로세스 |
CA2898747C (en) * | 2013-06-13 | 2021-09-21 | Ariosa Diagnostics, Inc. | Statistical analysis for non-invasive sex chromosome aneuploidy determination |
AU2014284180B2 (en) | 2013-06-21 | 2020-03-19 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
CN104520437B (zh) * | 2013-07-17 | 2016-09-14 | 深圳华大基因股份有限公司 | 一种染色体非整倍性检测方法及装置 |
US10174375B2 (en) | 2013-09-20 | 2019-01-08 | The Chinese University Of Hong Kong | Sequencing analysis of circulating DNA to detect and monitor autoimmune diseases |
US10262755B2 (en) | 2014-04-21 | 2019-04-16 | Natera, Inc. | Detecting cancer mutations and aneuploidy in chromosomal segments |
US9499870B2 (en) | 2013-09-27 | 2016-11-22 | Natera, Inc. | Cell free DNA diagnostic testing standards |
US10577655B2 (en) | 2013-09-27 | 2020-03-03 | Natera, Inc. | Cell free DNA diagnostic testing standards |
MY181069A (en) * | 2013-10-04 | 2020-12-17 | Sequenom Inc | Methods and processes for non-invasive assessment of genetic variations |
US10438691B2 (en) | 2013-10-07 | 2019-10-08 | Sequenom, Inc. | Non-invasive assessment of chromosome alterations using change in subsequence mappability |
AU2014340239B2 (en) * | 2013-10-21 | 2019-11-28 | Verinata Health, Inc. | Method for improving the sensitivity of detection in determining copy number variations |
WO2015089726A1 (zh) * | 2013-12-17 | 2015-06-25 | 深圳华大基因科技有限公司 | 一种染色体非整倍性检测方法及装置 |
ES2784450T3 (es) | 2013-12-28 | 2020-09-25 | Guardant Health Inc | Métodos y sistemas para detectar variantes genéticas |
WO2015138774A1 (en) | 2014-03-13 | 2015-09-17 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
EP3134541B1 (en) | 2014-04-21 | 2020-08-19 | Natera, Inc. | Detecting copy number variations (cnv) of chromosomal segments in cancer |
RU2602366C2 (ru) * | 2014-05-21 | 2016-11-20 | Общество С Ограниченной Ответственностью "Тестген" | Способ получения днк-праймеров и зондов для малоинвазивной пренатальной пцр-диагностики трисомии 21-й хромосомы у плода по крови беременной женщины и диагностический набор для ее осуществления |
KR101663171B1 (ko) * | 2014-05-27 | 2016-10-14 | 이원 다이애그노믹스 게놈센타(주) | 다운증후군 진단을 위한 바이오마커 및 그의 용도 |
WO2016003047A1 (ko) * | 2014-07-01 | 2016-01-07 | 바이오코아 주식회사 | 디지털 pcr을 이용하여 임부의 혈액 또는 혈장으로부터 태아의 유전자 정보를 분석하는 방법 |
CN106795562B (zh) * | 2014-07-18 | 2022-03-25 | 香港中文大学 | Dna混合物中的组织甲基化模式分析 |
WO2016010401A1 (ko) * | 2014-07-18 | 2016-01-21 | 에스케이텔레콘 주식회사 | 산모의 혈청 dna를 이용한 태아의 단일유전자 유전변이의 예측방법 |
KR20160010277A (ko) * | 2014-07-18 | 2016-01-27 | 에스케이텔레콤 주식회사 | 산모의 무세포 dna의 차세대 서열분석을 통한 태아의 단일유전자 유전변이의 예측방법 |
US20160026759A1 (en) * | 2014-07-22 | 2016-01-28 | Yourgene Bioscience | Detecting Chromosomal Aneuploidy |
EP4358097A1 (en) | 2014-07-25 | 2024-04-24 | University of Washington | Methods of determining tissues and/or cell types giving rise to cell-free dna, and methods of identifying a disease or disorder using same |
WO2016019042A1 (en) | 2014-07-30 | 2016-02-04 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
US11072814B2 (en) | 2014-12-12 | 2021-07-27 | Verinata Health, Inc. | Using cell-free DNA fragment size to determine copy number variations |
US10364467B2 (en) | 2015-01-13 | 2019-07-30 | The Chinese University Of Hong Kong | Using size and number aberrations in plasma DNA for detecting cancer |
US10319463B2 (en) * | 2015-01-23 | 2019-06-11 | The Chinese University Of Hong Kong | Combined size- and count-based analysis of maternal plasma for detection of fetal subchromosomal aberrations |
ES2908347T3 (es) | 2015-02-10 | 2022-04-28 | Univ Hong Kong Chinese | Detección de mutaciones para cribado de cáncer y análisis fetal |
CN104789686B (zh) * | 2015-05-06 | 2018-09-07 | 浙江安诺优达生物科技有限公司 | 检测染色体非整倍性的试剂盒和装置 |
CN104789466B (zh) * | 2015-05-06 | 2018-03-13 | 安诺优达基因科技(北京)有限公司 | 检测染色体非整倍性的试剂盒和装置 |
WO2016183106A1 (en) | 2015-05-11 | 2016-11-17 | Natera, Inc. | Methods and compositions for determining ploidy |
US10395759B2 (en) | 2015-05-18 | 2019-08-27 | Regeneron Pharmaceuticals, Inc. | Methods and systems for copy number variant detection |
EP3666902B1 (en) | 2015-05-22 | 2024-07-03 | Medicover Public Co Ltd | Multiplexed parallel analysis of targeted genomic regions for non-invasive prenatal testing |
CN104951671B (zh) * | 2015-06-10 | 2017-09-19 | 东莞博奥木华基因科技有限公司 | 基于单样本外周血检测胎儿染色体非整倍性的装置 |
JP2018518203A (ja) * | 2015-06-24 | 2018-07-12 | オックスフォード バイオダイナミックス リミテッド | エピジェネティックな染色体相互作用 |
EP3118323A1 (en) | 2015-07-13 | 2017-01-18 | Cartagenia N.V. | System and methodology for the analysis of genomic data obtained from a subject |
US20180211002A1 (en) | 2015-07-13 | 2018-07-26 | Agilent Technologies Belgium Nv | System and methodology for the analysis of genomic data obtained from a subject |
ES2911613T3 (es) | 2015-07-20 | 2022-05-20 | Univ Hong Kong Chinese | Análisis de patrones de metilación de haplotipos en tejidos en una mezcla de ADN |
CA2993362A1 (en) | 2015-07-23 | 2017-01-26 | The Chinese University Of Hong Kong | Analysis of fragmentation patterns of cell-free dna |
AU2016305103C1 (en) | 2015-08-12 | 2020-06-04 | The Chinese University Of Hong Kong | Single-molecule sequencing of plasma DNA |
WO2017044609A1 (en) | 2015-09-08 | 2017-03-16 | Cold Spring Harbor Laboratory | Genetic copy number determination using high throughput multiplex sequencing of smashed nucleotides |
US10774375B2 (en) | 2015-09-18 | 2020-09-15 | Agena Bioscience, Inc. | Methods and compositions for the quantitation of mitochondrial nucleic acid |
WO2017051996A1 (ko) * | 2015-09-24 | 2017-03-30 | 에스케이텔레콤 주식회사 | 비침습적 태아 염색체 이수성 판별 방법 |
CN105132572B (zh) * | 2015-09-25 | 2018-03-02 | 邯郸市康业生物科技有限公司 | 一种无创产前筛查21‑三体综合征试剂盒 |
KR101848438B1 (ko) * | 2015-10-29 | 2018-04-13 | 바이오코아 주식회사 | 디지털 pcr을 이용한 산전진단 방법 |
JP2019507585A (ja) | 2015-12-17 | 2019-03-22 | ガーダント ヘルス, インコーポレイテッド | 無細胞dnaの分析による腫瘍遺伝子コピー数を決定するための方法 |
GB201522665D0 (en) * | 2015-12-22 | 2016-02-03 | Premaitha Ltd | Detection of chromosome abnormalities |
KR101817180B1 (ko) * | 2016-01-20 | 2018-01-10 | 이원다이애그노믹스(주) | 염색체 이상 판단 방법 |
US10095831B2 (en) | 2016-02-03 | 2018-10-09 | Verinata Health, Inc. | Using cell-free DNA fragment size to determine copy number variations |
WO2017192589A1 (en) | 2016-05-02 | 2017-11-09 | The United States Of America, As Represented By The Secretary, Department Of Health And Human Services | Neutralizing antibodies to influenza ha and their use and identification |
KR101879329B1 (ko) * | 2016-06-13 | 2018-07-17 | 충북대학교 산학협력단 | 유전자 차별 발현 분석을 위한 RNA-seq 발현량 데이터 시뮬레이션 방법 및 이를 기록한 기록매체 |
US11200963B2 (en) | 2016-07-27 | 2021-12-14 | Sequenom, Inc. | Genetic copy number alteration classifications |
WO2018064486A1 (en) | 2016-09-29 | 2018-04-05 | Counsyl, Inc. | Noninvasive prenatal screening using dynamic iterative depth optimization |
US9850523B1 (en) | 2016-09-30 | 2017-12-26 | Guardant Health, Inc. | Methods for multi-resolution analysis of cell-free nucleic acids |
SG11201811159SA (en) | 2016-09-30 | 2019-01-30 | Guardant Health Inc | Methods for multi-resolution analysis of cell-free nucleic acids |
WO2018067517A1 (en) | 2016-10-04 | 2018-04-12 | Natera, Inc. | Methods for characterizing copy number variation using proximity-litigation sequencing |
CN110100013A (zh) | 2016-10-24 | 2019-08-06 | 香港中文大学 | 用于肿瘤检测的方法和*** |
KR20230062684A (ko) | 2016-11-30 | 2023-05-09 | 더 차이니즈 유니버시티 오브 홍콩 | 소변 및 기타 샘플에서의 무세포 dna의 분석 |
US10011870B2 (en) | 2016-12-07 | 2018-07-03 | Natera, Inc. | Compositions and methods for identifying nucleic acid molecules |
BR112019014208A2 (pt) * | 2017-01-11 | 2020-03-17 | Quest Diagnostics Investments Llc | Métodos para detectar diagnóstico falso-positivo de aneuploidia cromossômica em um feto e para detectar diagnóstico aneuploidiadiagnóstico de aneuploidia cromossômica falso-positiva em um feto. |
JP7237003B2 (ja) | 2017-01-24 | 2023-03-10 | セクエノム, インコーポレイテッド | 遺伝子片の評価のための方法およびプロセス |
CA3051509A1 (en) | 2017-01-25 | 2018-08-02 | The Chinese University Of Hong Kong | Diagnostic applications using nucleic acid fragments |
WO2018156418A1 (en) | 2017-02-21 | 2018-08-30 | Natera, Inc. | Compositions, methods, and kits for isolating nucleic acids |
EP3642353A4 (en) | 2017-06-20 | 2021-02-24 | The Medical College of Wisconsin, Inc. | ASSESSMENT OF THE RISK OF COMPLICATION OF A TRANSPLANT WITH TOTAL ACELLULAR DNA |
SI3658689T1 (sl) | 2017-07-26 | 2021-08-31 | Trisomytest, S.R.O. | Metoda za neizvazivno predrojstno zaznavanje anevploidije plodovih kromosomov iz materine krvi na osnovi Bayesove mreže |
EP3662480A4 (en) | 2017-08-04 | 2021-05-19 | BillionToOne, Inc. | TARGET-ASSOCIATED MOLECULES FOR CHARACTERIZATION IN CONNECTION WITH BIOLOGICAL TARGETS |
EA202090348A1 (ru) | 2017-08-04 | 2020-05-06 | Трисомытест, С.Р.О. | Способ неинвазивного пренатального выявления аномалий половых хромосом у плода и определения пола плода в случае одноплодной и двухплодной беременности |
US11519024B2 (en) | 2017-08-04 | 2022-12-06 | Billiontoone, Inc. | Homologous genomic regions for characterization associated with biological targets |
SK862017A3 (sk) | 2017-08-24 | 2020-05-04 | Grendar Marian Doc Mgr Phd | Spôsob použitia fetálnej frakcie a chromozómovej reprezentácie pri určovaní aneuploidného stavu v neinvazívnom prenatálnom testovaní |
WO2019043656A1 (en) * | 2017-09-01 | 2019-03-07 | Genus Plc | METHODS AND SYSTEMS FOR ASSESSING AND / OR QUANTIFYING POPULATIONS OF SPERMATOZOIDS WITH SEXUAL ASYMMETRY |
KR20200085783A (ko) | 2017-10-27 | 2020-07-15 | 주노 다이어그노스틱스, 인크. | 초저용량 액체 생검을 위한 장치, 시스템 및 방법 |
US11168356B2 (en) | 2017-11-02 | 2021-11-09 | The Chinese University Of Hong Kong | Using nucleic acid size range for noninvasive cancer detection |
CN109979529B (zh) * | 2017-12-28 | 2021-01-08 | 北京安诺优达医学检验实验室有限公司 | Cnv检测装置 |
DK3735470T3 (da) | 2018-01-05 | 2024-02-26 | Billiontoone Inc | Kvalitetskontroltemplates til sikring af validiteten af sekventeringsbaserede analyser |
CN108282396B (zh) * | 2018-02-13 | 2022-02-22 | 湖南快乐阳光互动娱乐传媒有限公司 | 一种im集群中的多级消息广播方法及*** |
KR102099151B1 (ko) * | 2018-03-05 | 2020-04-10 | 서강대학교산학협력단 | 마이크로웰 어레이를 이용한 dPCR 분석방법 및 분석장치 |
WO2019195225A1 (en) | 2018-04-02 | 2019-10-10 | Illumina, Inc. | Compositions and methods for making controls for sequence-based genetic testing |
CA3095292A1 (en) | 2018-04-02 | 2019-10-10 | Progenity, Inc. | Methods, systems, and compositions for counting nucleic acid molecules |
US12024738B2 (en) | 2018-04-14 | 2024-07-02 | Natera, Inc. | Methods for cancer detection and monitoring |
AU2019263869A1 (en) | 2018-05-03 | 2020-11-26 | Grail, Inc. | Size-tagged preferred ends and orientation-aware analysis for measuring properties of cell-free mixtures |
CA3098321A1 (en) | 2018-06-01 | 2019-12-05 | Grail, Inc. | Convolutional neural network systems and methods for data classification |
US11525159B2 (en) | 2018-07-03 | 2022-12-13 | Natera, Inc. | Methods for detection of donor-derived cell-free DNA |
WO2020096691A2 (en) * | 2018-09-04 | 2020-05-14 | Guardant Health, Inc. | Methods and systems for detecting allelic imbalance in cell-free nucleic acid samples |
US20210301342A1 (en) | 2018-09-07 | 2021-09-30 | Sequenom, Inc. | Methods, and systems to detect transplant rejection |
WO2020076474A1 (en) | 2018-10-12 | 2020-04-16 | Nantomics, Llc | Prenatal purity assessments using bambam |
EP3874060A1 (en) * | 2018-10-31 | 2021-09-08 | Guardant Health, Inc. | Methods, compositions and systems for calibrating epigenetic partitioning assays |
CN109545379B (zh) * | 2018-12-05 | 2021-11-09 | 易必祥 | 基于基因大数据的治疗*** |
US11581062B2 (en) | 2018-12-10 | 2023-02-14 | Grail, Llc | Systems and methods for classifying patients with respect to multiple cancer classes |
JP6783437B2 (ja) * | 2019-01-04 | 2020-11-11 | 株式会社大一商会 | 遊技機 |
JP2020108548A (ja) * | 2019-01-04 | 2020-07-16 | 株式会社大一商会 | 遊技機 |
US11643693B2 (en) | 2019-01-31 | 2023-05-09 | Guardant Health, Inc. | Compositions and methods for isolating cell-free DNA |
US20220093208A1 (en) | 2019-02-19 | 2022-03-24 | Sequenom, Inc. | Compositions, methods, and systems to detect hematopoietic stem cell transplantation status |
KR20200109544A (ko) * | 2019-03-13 | 2020-09-23 | 울산대학교 산학협력단 | 공통 유전자 추출에 의한 다중 암 분류 방법 |
AU2020246747A1 (en) | 2019-03-25 | 2021-08-26 | Grail, Inc. | Determining linear and circular forms of circulating nucleic acids |
WO2020206170A1 (en) | 2019-04-02 | 2020-10-08 | Progenity, Inc. | Methods, systems, and compositions for counting nucleic acid molecules |
US11931674B2 (en) | 2019-04-04 | 2024-03-19 | Natera, Inc. | Materials and methods for processing blood samples |
RU2717023C1 (ru) * | 2019-04-24 | 2020-03-17 | Общество с ограниченной ответственностью "ГЕНОТЕК ИТ" | Способ определения кариотипа плода беременной женщины на основании секвенирования гибридных прочтений, состоящих из коротких фрагментов внеклеточной ДНК |
TWI724710B (zh) * | 2019-08-16 | 2021-04-11 | 財團法人工業技術研究院 | 建構數位化疾病模組的方法及裝置 |
IL294153B2 (en) | 2019-08-16 | 2023-09-01 | Univ Hong Kong Chinese | Determination of base changes of nucleic acids |
WO2021067417A1 (en) * | 2019-09-30 | 2021-04-08 | Myome, Inc. | Polygenic risk score for in vitro fertilization |
KR20220097894A (ko) * | 2019-10-16 | 2022-07-08 | 스틸라 테크놀로지스 | 핵산 서열 농도의 측정 |
WO2021137770A1 (en) | 2019-12-30 | 2021-07-08 | Geneton S.R.O. | Method for fetal fraction estimation based on detection and interpretation of single nucleotide variants |
US20210238668A1 (en) * | 2020-01-08 | 2021-08-05 | The Chinese University Of Hong Kong | Biterminal dna fragment types in cell-free samples and uses thereof |
US11475981B2 (en) | 2020-02-18 | 2022-10-18 | Tempus Labs, Inc. | Methods and systems for dynamic variant thresholding in a liquid biopsy assay |
US11211147B2 (en) | 2020-02-18 | 2021-12-28 | Tempus Labs, Inc. | Estimation of circulating tumor fraction using off-target reads of targeted-panel sequencing |
US11211144B2 (en) | 2020-02-18 | 2021-12-28 | Tempus Labs, Inc. | Methods and systems for refining copy number variation in a liquid biopsy assay |
EP4110953A2 (en) | 2020-02-28 | 2023-01-04 | Laboratory Corporation of America Holdings | Compositions, methods, and systems for paternity determination |
WO2021229661A1 (ja) * | 2020-05-11 | 2021-11-18 | 日本電気株式会社 | 判定装置、判定方法および記録媒体 |
US20220254153A1 (en) * | 2020-05-11 | 2022-08-11 | Nec Corporation | Determination device, determination method, and recording medium |
WO2021237105A1 (en) * | 2020-05-22 | 2021-11-25 | Invitae Corporation | Methods for determining a genetic variation |
CN114645080A (zh) * | 2020-12-21 | 2022-06-21 | 高嵩 | 一种利用多态性位点和靶位点测序检测胎儿遗传变异的方法 |
WO2022246291A1 (en) * | 2021-05-21 | 2022-11-24 | Invitae Corporation | Methods for determining a genetic variation |
CN113981062B (zh) * | 2021-10-14 | 2024-02-20 | 武汉蓝沙医学检验实验室有限公司 | 以非生父和母亲dna评估胎儿dna浓度的方法及应用 |
US12043873B2 (en) | 2022-03-21 | 2024-07-23 | Billiontoone, Inc. | Molecule counting of methylated cell-free DNA for treatment monitoring |
WO2024058850A1 (en) * | 2022-09-16 | 2024-03-21 | Myriad Women's Health, Inc. | Rna-facs for rare cell isolation and detection of genetic variants |
Family Cites Families (94)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US5641628A (en) * | 1989-11-13 | 1997-06-24 | Children's Medical Center Corporation | Non-invasive method for isolation and detection of fetal DNA |
AU2765992A (en) * | 1991-10-03 | 1993-05-03 | Indiana University Foundation | Method for screening for alzheimer's disease |
US6100029A (en) * | 1996-08-14 | 2000-08-08 | Exact Laboratories, Inc. | Methods for the detection of chromosomal aberrations |
GB9704444D0 (en) * | 1997-03-04 | 1997-04-23 | Isis Innovation | Non-invasive prenatal diagnosis |
US20010051341A1 (en) * | 1997-03-04 | 2001-12-13 | Isis Innovation Limited | Non-invasive prenatal diagnosis |
US6143496A (en) * | 1997-04-17 | 2000-11-07 | Cytonix Corporation | Method of sampling, amplifying and quantifying segment of nucleic acid, polymerase chain reaction assembly having nanoliter-sized sample chambers, and method of filling assembly |
US6558901B1 (en) * | 1997-05-02 | 2003-05-06 | Biomerieux Vitek | Nucleic acid assays |
US6566101B1 (en) * | 1997-06-16 | 2003-05-20 | Anthony P. Shuber | Primer extension methods for detecting nucleic acids |
US20030022207A1 (en) | 1998-10-16 | 2003-01-30 | Solexa, Ltd. | Arrayed polynucleotides and their use in genome analysis |
AU3372800A (en) * | 1999-02-23 | 2000-09-14 | Caliper Technologies Corporation | Manipulation of microparticles in microfluidic systems |
AUPQ008799A0 (en) * | 1999-04-30 | 1999-05-27 | Tillett, Daniel | Genome sequencing |
US6818395B1 (en) * | 1999-06-28 | 2004-11-16 | California Institute Of Technology | Methods and apparatus for analyzing polynucleotide sequences |
US6440706B1 (en) * | 1999-08-02 | 2002-08-27 | Johns Hopkins University | Digital amplification |
WO2001027857A2 (en) * | 1999-10-13 | 2001-04-19 | Sequenom, Inc. | Methods for generating databases and databases for identifying polymorphic genetic markers |
GB0009784D0 (en) * | 2000-04-20 | 2000-06-07 | Simeg Limited | Methods for clinical diagnosis |
GB0016742D0 (en) * | 2000-07-10 | 2000-08-30 | Simeg Limited | Diagnostic method |
US6664056B2 (en) * | 2000-10-17 | 2003-12-16 | The Chinese University Of Hong Kong | Non-invasive prenatal monitoring |
US8898021B2 (en) * | 2001-02-02 | 2014-11-25 | Mark W. Perlin | Method and system for DNA mixture analysis |
US20020164816A1 (en) * | 2001-04-06 | 2002-11-07 | California Institute Of Technology | Microfluidic sample separation device |
WO2002081729A2 (en) * | 2001-04-06 | 2002-10-17 | California Institute Of Technology | Nucleic acid amplification utilizing microfluidic devices |
US7118907B2 (en) * | 2001-06-06 | 2006-10-10 | Li-Cor, Inc. | Single molecule detection systems and methods |
US20050037388A1 (en) * | 2001-06-22 | 2005-02-17 | University Of Geneva | Method for detecting diseases caused by chromosomal imbalances |
US6927028B2 (en) * | 2001-08-31 | 2005-08-09 | Chinese University Of Hong Kong | Non-invasive methods for detecting non-host DNA in a host using epigenetic differences between the host and non-host DNA |
GT200200183A (es) * | 2001-09-28 | 2003-05-23 | Procedimiento para preparar derivados de heterocicloalquilsulfonil pirazol | |
IL161267A0 (en) | 2001-10-05 | 2004-09-27 | Combinatorx Inc | Combinations for the treatment of immunoinflammatory disorders |
DE60232013D1 (de) * | 2001-11-20 | 2009-05-28 | Exact Sciences Corp | Automatische probenvorbereitungsverfahren und -vorrichtungen |
US7691333B2 (en) * | 2001-11-30 | 2010-04-06 | Fluidigm Corporation | Microfluidic device and methods of using same |
EP1463796B1 (en) | 2001-11-30 | 2013-01-09 | Fluidigm Corporation | Microfluidic device and methods of using same |
US20030180765A1 (en) | 2002-02-01 | 2003-09-25 | The Johns Hopkins University | Digital amplification for detection of mismatch repair deficient tumor cells |
US6977162B2 (en) * | 2002-03-01 | 2005-12-20 | Ravgen, Inc. | Rapid analysis of variations in a genome |
CA2477761A1 (en) | 2002-03-01 | 2003-09-12 | Ravgen, Inc. | Methods for detection of genetic disorders |
US20070178478A1 (en) * | 2002-05-08 | 2007-08-02 | Dhallan Ravinder S | Methods for detection of genetic disorders |
US7727720B2 (en) * | 2002-05-08 | 2010-06-01 | Ravgen, Inc. | Methods for detection of genetic disorders |
US7442506B2 (en) * | 2002-05-08 | 2008-10-28 | Ravgen, Inc. | Methods for detection of genetic disorders |
KR100500697B1 (ko) | 2002-10-21 | 2005-07-12 | 한국에너지기술연구원 | 다단계 열회수형 물유동층 열교환기 |
US7704687B2 (en) * | 2002-11-15 | 2010-04-27 | The Johns Hopkins University | Digital karyotyping |
AU2004205774B2 (en) * | 2003-01-17 | 2006-12-14 | The Chinese University Of Hong Kong | Circulating mRNA as diagnostic markers for pregnancy-related disorders |
EP1601785A4 (en) | 2003-02-28 | 2007-02-07 | Ravgen Inc | METHOD FOR DETECTING GENETIC DISEASES |
US8394582B2 (en) * | 2003-03-05 | 2013-03-12 | Genetic Technologies, Inc | Identification of fetal DNA and fetal cell markers in maternal plasma or serum |
EP1606417A2 (en) * | 2003-03-07 | 2005-12-21 | Rubicon Genomics Inc. | In vitro dna immortalization and whole genome amplification using libraries generated from randomly fragmented dna |
US20050112604A1 (en) | 2003-03-14 | 2005-05-26 | Akihide Fujimoto | Loss of heterozygosity of the DNA markers in the 12q22-23 region |
US7604965B2 (en) * | 2003-04-03 | 2009-10-20 | Fluidigm Corporation | Thermal reaction device and method for using the same |
US20050145496A1 (en) * | 2003-04-03 | 2005-07-07 | Federico Goodsaid | Thermal reaction device and method for using the same |
US20040197832A1 (en) * | 2003-04-03 | 2004-10-07 | Mor Research Applications Ltd. | Non-invasive prenatal genetic diagnosis using transcervical cells |
JP5419248B2 (ja) * | 2003-04-03 | 2014-02-19 | フルイディグム コーポレイション | マイクロ流体装置およびその使用方法 |
US7476363B2 (en) * | 2003-04-03 | 2009-01-13 | Fluidigm Corporation | Microfluidic devices and methods of using same |
RU2249820C1 (ru) * | 2003-08-18 | 2005-04-10 | Лактионов Павел Петрович | Способ ранней диагностики заболеваний, связанных с нарушением функционирования генетического аппарата клетки |
WO2005023091A2 (en) * | 2003-09-05 | 2005-03-17 | The Trustees Of Boston University | Method for non-invasive prenatal diagnosis |
US20050282213A1 (en) * | 2003-09-22 | 2005-12-22 | Trisogen Biotechnology Limited Partnership | Methods and kits useful for detecting an alteration in a locus copy number |
CN101985619B (zh) | 2003-10-08 | 2014-08-20 | 波士顿大学信托人 | 染色体异常的产前诊断方法 |
DE60328193D1 (de) * | 2003-10-16 | 2009-08-13 | Sequenom Inc | Nicht invasiver Nachweis fötaler genetischer Merkmale |
US20050221341A1 (en) * | 2003-10-22 | 2005-10-06 | Shimkets Richard A | Sequence-based karyotyping |
CA2544178A1 (en) * | 2003-10-30 | 2005-05-19 | Tufts-New England Medical Center | Prenatal diagnosis using cell-free fetal dna in amniotic fluid |
US20100216153A1 (en) * | 2004-02-27 | 2010-08-26 | Helicos Biosciences Corporation | Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities |
US20100216151A1 (en) * | 2004-02-27 | 2010-08-26 | Helicos Biosciences Corporation | Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities |
US20060046258A1 (en) * | 2004-02-27 | 2006-03-02 | Lapidus Stanley N | Applications of single molecule sequencing |
US7709194B2 (en) | 2004-06-04 | 2010-05-04 | The Chinese University Of Hong Kong | Marker for prenatal diagnosis and monitoring |
DE102004036285A1 (de) * | 2004-07-27 | 2006-02-16 | Advalytix Ag | Verfahren zum Bestimmen der Häufigkeit von Sequenzen einer Probe |
EP1799858A4 (en) * | 2004-09-20 | 2009-03-04 | Univ Pittsburgh | MULTI MODE MULTIPLEX FIRE PROCEDURES |
CN1779688A (zh) * | 2004-11-22 | 2006-05-31 | 寰硕数码股份有限公司 | 交互式医疗信息***及方法 |
CA2601735C (en) * | 2005-03-18 | 2015-10-06 | The Chinese University Of Hong Kong | Markers for prenatal diagnosis and monitoring of trisomy 21 |
CA2601221C (en) * | 2005-03-18 | 2013-08-06 | The Chinese University Of Hong Kong | A method for the detection of chromosomal aneuploidies |
US20070196820A1 (en) | 2005-04-05 | 2007-08-23 | Ravi Kapur | Devices and methods for enrichment and alteration of cells and other particles |
EP2477029A1 (en) | 2005-06-02 | 2012-07-18 | Fluidigm Corporation | Analysis using microfluidic partitioning devices |
WO2007001259A1 (en) * | 2005-06-16 | 2007-01-04 | Government Of The United States Of America, Represented By The Secretary, Department Of Health And Human Services | Methods and materials for identifying polymorphic variants, diagnosing susceptibilities, and treating disease |
US20070059680A1 (en) * | 2005-09-15 | 2007-03-15 | Ravi Kapur | System for cell enrichment |
US20070122823A1 (en) | 2005-09-01 | 2007-05-31 | Bianchi Diana W | Amniotic fluid cell-free fetal DNA fragment size pattern for prenatal diagnosis |
US20070184511A1 (en) * | 2005-11-18 | 2007-08-09 | Large Scale Biology Corporation | Method for Diagnosing a Person Having Sjogren's Syndrome |
EP3599609A1 (en) * | 2005-11-26 | 2020-01-29 | Natera, Inc. | System and method for cleaning noisy genetic data and using data to make predictions |
ES2739484T3 (es) * | 2006-02-02 | 2020-01-31 | Univ Leland Stanford Junior | Prueba genética fetal no invasiva mediante análisis digital |
CA2647793C (en) | 2006-02-28 | 2016-07-05 | University Of Louisville Research Foundation | Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms |
WO2007112418A2 (en) * | 2006-03-28 | 2007-10-04 | Baylor College Of Medicine | Screening for down syndrome |
US8058055B2 (en) * | 2006-04-07 | 2011-11-15 | Agilent Technologies, Inc. | High resolution chromosomal mapping |
US7901884B2 (en) * | 2006-05-03 | 2011-03-08 | The Chinese University Of Hong Kong | Markers for prenatal diagnosis and monitoring |
US7754428B2 (en) | 2006-05-03 | 2010-07-13 | The Chinese University Of Hong Kong | Fetal methylation markers |
US20080050739A1 (en) * | 2006-06-14 | 2008-02-28 | Roland Stoughton | Diagnosis of fetal abnormalities using polymorphisms including short tandem repeats |
US20080070792A1 (en) * | 2006-06-14 | 2008-03-20 | Roland Stoughton | Use of highly parallel snp genotyping for fetal diagnosis |
US8137912B2 (en) * | 2006-06-14 | 2012-03-20 | The General Hospital Corporation | Methods for the diagnosis of fetal abnormalities |
EP3425058A1 (en) | 2006-06-14 | 2019-01-09 | Verinata Health, Inc | Diagnosis of fetal abnormalities using polymorphisms including short tandem repeats |
US20080026390A1 (en) * | 2006-06-14 | 2008-01-31 | Roland Stoughton | Diagnosis of Fetal Abnormalities by Comparative Genomic Hybridization Analysis |
US20080090239A1 (en) * | 2006-06-14 | 2008-04-17 | Daniel Shoemaker | Rare cell analysis using sample splitting and dna tags |
EP2548972A1 (en) | 2006-06-14 | 2013-01-23 | Verinata Health, Inc | Methods for the diagnosis of fetal abnormalities |
EP2589668A1 (en) * | 2006-06-14 | 2013-05-08 | Verinata Health, Inc | Rare cell analysis using sample splitting and DNA tags |
CA2655269A1 (en) * | 2006-06-16 | 2007-12-21 | Sequenom, Inc. | Methods and compositions for the amplification, detection and quantification of nucleic acid from a sample |
US20080113358A1 (en) * | 2006-07-28 | 2008-05-15 | Ravi Kapur | Selection of cells using biomarkers |
NO2958395T3 (ja) * | 2007-01-30 | 2018-05-12 | ||
CA2677517C (en) * | 2007-02-08 | 2015-11-03 | Sequenom, Inc. | Nucleic acid-based tests for rhd typing, gender determination and nucleic acid quantification |
US20100094562A1 (en) * | 2007-05-04 | 2010-04-15 | Mordechai Shohat | System, Method and Device for Comprehensive Individualized Genetic Information or Genetic Counseling |
CA2688032C (en) | 2007-05-24 | 2015-11-03 | Apceth Gmbh & Co. Kg | Cd34 stem cell-related methods and compositions |
CA2900927C (en) | 2007-07-23 | 2018-08-14 | The Chinese University Of Hong Kong | Diagnosing fetal chromosomal aneuploidy using genomic sequencing |
US20090053719A1 (en) | 2007-08-03 | 2009-02-26 | The Chinese University Of Hong Kong | Analysis of nucleic acids by digital pcr |
SI2200622T2 (sl) | 2007-09-19 | 2015-09-30 | Pluristem Ltd. | Adherentne celice iz adipoznih ali placentnih tkiv in njihova uporaba pri terapiji |
CA3069082C (en) * | 2008-09-20 | 2022-03-22 | The Board Of Trustees Of The Leland Stanford Junior University | Noninvasive diagnosis of fetal aneuploidy by sequencing |
MX357692B (es) * | 2009-11-06 | 2018-07-19 | Univ Hong Kong Chinese | Analisis genomico a base de tamaño. |
-
2008
- 2008-07-23 CA CA2900927A patent/CA2900927C/en active Active
- 2008-07-23 SI SI200831133T patent/SI2183693T2/sl unknown
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