JP2015515266A5 - - Google Patents

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JP2015515266A5
JP2015515266A5 JP2015500578A JP2015500578A JP2015515266A5 JP 2015515266 A5 JP2015515266 A5 JP 2015515266A5 JP 2015500578 A JP2015500578 A JP 2015500578A JP 2015500578 A JP2015500578 A JP 2015500578A JP 2015515266 A5 JP2015515266 A5 JP 2015515266A5
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chromosome
chromosomal region
tissue
content
region
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JP2015500578A
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JP6411995B2 (ja
JP2015515266A (ja
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Priority claimed from PCT/US2013/031082 external-priority patent/WO2013138527A1/en
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JP2015500578A 2012-03-13 2013-03-13 非侵襲的出生前診断のために大量並列シークエンシング・データを分析する方法 Active JP6411995B2 (ja)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201261610422P 2012-03-13 2012-03-13
US61/610,422 2012-03-13
PCT/US2013/031082 WO2013138527A1 (en) 2012-03-13 2013-03-13 Methods for analyzing massively parallel sequencing data for noninvasive prenatal diagnosis

Publications (3)

Publication Number Publication Date
JP2015515266A JP2015515266A (ja) 2015-05-28
JP2015515266A5 true JP2015515266A5 (enExample) 2015-12-10
JP6411995B2 JP6411995B2 (ja) 2018-10-24

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JP2015500578A Active JP6411995B2 (ja) 2012-03-13 2013-03-13 非侵襲的出生前診断のために大量並列シークエンシング・データを分析する方法

Country Status (6)

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US (1) US9218449B2 (enExample)
EP (2) EP3573066B1 (enExample)
JP (1) JP6411995B2 (enExample)
AU (1) AU2013232123B2 (enExample)
CA (1) CA2866324C (enExample)
WO (1) WO2013138527A1 (enExample)

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US20140242588A1 (en) 2011-10-06 2014-08-28 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
US10424394B2 (en) 2011-10-06 2019-09-24 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP2805280B1 (en) 2012-01-20 2022-10-05 Sequenom, Inc. Diagnostic processes that factor experimental conditions
US9920361B2 (en) 2012-05-21 2018-03-20 Sequenom, Inc. Methods and compositions for analyzing nucleic acid
US10504613B2 (en) 2012-12-20 2019-12-10 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10497461B2 (en) 2012-06-22 2019-12-03 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
US20130309666A1 (en) 2013-01-25 2013-11-21 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP4187543A1 (en) 2013-04-03 2023-05-31 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10699800B2 (en) 2013-05-24 2020-06-30 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
KR102299305B1 (ko) 2013-06-21 2021-09-06 시쿼넘, 인코포레이티드 유전적 변이의 비침습 평가를 위한 방법 및 프로세스
DK3053071T3 (da) 2013-10-04 2024-01-22 Sequenom Inc Fremgangsmåder og processer til ikke-invasiv bedømmelse af genetiske variationer
EP3495496B1 (en) 2013-10-07 2020-11-25 Sequenom, Inc. Methods and processes for non-invasive assessment of chromosome alterations
JP6534191B2 (ja) * 2013-10-21 2019-06-26 ベリナタ ヘルス インコーポレイテッド コピー数変動を決定することにおける検出の感度を向上させるための方法
CA2929557C (en) 2013-11-07 2023-09-26 The Board Of Trustees Of The Leland Stanford Junior University Cell-free nucleic acids for the analysis of the human microbiome and components thereof
JP6659672B2 (ja) 2014-05-30 2020-03-04 ベリナタ ヘルス インコーポレイテッド 胎児染色体部分異数性およびコピー数変動の検出
CA2956208C (en) 2014-07-25 2025-07-08 University Of Washington METHODS FOR DETERMINING TISSUES AND/OR CELL TYPES RENDERING CELL-FREE DNA AND RELATED METHODS FOR DETERMINING A DISEASE OR DISORDER
EP3175000B1 (en) 2014-07-30 2020-07-29 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
AU2015360298B2 (en) 2014-12-12 2018-06-07 Verinata Health, Inc. Using cell-free DNA fragment size to determine copy number variations
CA2986036C (en) 2015-05-18 2022-07-26 Karius, Inc. Compositions and methods for enriching populations of nucleic acids
KR101678962B1 (ko) * 2015-08-21 2016-12-06 이승재 대규모 병렬형 게놈서열분석 방법을 이용한 비침습적 산전검사 장치 및 방법
US10095831B2 (en) 2016-02-03 2018-10-09 Verinata Health, Inc. Using cell-free DNA fragment size to determine copy number variations
EP3433382B1 (en) 2016-03-25 2021-09-01 Karius, Inc. Synthetic nucleic acid spike-ins
CA3030038A1 (en) * 2016-07-06 2018-01-11 Guardant Health, Inc. Methods for fragmentome profiling of cell-free nucleic acids
US11200963B2 (en) 2016-07-27 2021-12-14 Sequenom, Inc. Genetic copy number alteration classifications
WO2018140521A1 (en) 2017-01-24 2018-08-02 Sequenom, Inc. Methods and processes for assessment of genetic variations
PT3596233T (pt) 2017-03-17 2022-08-22 Sequenom Inc Métodos e processos para avaliação de mosaicismo genético
CA3059370C (en) 2017-04-12 2022-05-10 Karius, Inc. Methods for concurrent analysis of dna and rna in mixed samples
JP2021500883A (ja) 2017-10-27 2021-01-14 ジュノ ダイアグノスティックス,インク. 超微量リキッドバイオプシーのためのデバイス、システム、および方法
CN108733979A (zh) * 2017-10-30 2018-11-02 成都凡迪医疗器械有限公司 Nipt的gc含量校准方法、装置及计算机可读存储介质
US12590326B2 (en) 2018-01-10 2026-03-31 Guardant Health, Inc. Methods for fragmentome profiling of cell-free nucleic acids
WO2019178157A1 (en) 2018-03-16 2019-09-19 Karius, Inc. Sample series to differentiate target nucleic acids from contaminant nucleic acids
CA3095030A1 (en) 2018-03-30 2019-10-03 Juno Diagnostics, Inc. Deep learning-based methods, devices, and systems for prenatal testing
EP4428234B1 (en) 2018-11-21 2025-12-24 Karius, Inc. Direct-to-library methods, systems, and compositions
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
CN115938473A (zh) * 2022-01-20 2023-04-07 重庆师范大学 一种化学计量基因组基础分析的计算方法

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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
AT412476B (de) * 2002-09-24 2005-03-25 Forsch Krebskranke Kinder Verfahren zur herstellung eines virtuellen chromosoms
US7371525B2 (en) 2003-07-29 2008-05-13 The Chinese University Of Hong Kong Compositions and methods for diagnosing and treating severe acute respiratory syndrome (SARS)
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US7754428B2 (en) 2006-05-03 2010-07-13 The Chinese University Of Hong Kong Fetal methylation markers
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US12180549B2 (en) 2007-07-23 2024-12-31 The Chinese University Of Hong Kong Diagnosing fetal chromosomal aneuploidy using genomic sequencing
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US8563242B2 (en) 2009-08-11 2013-10-22 The Chinese University Of Hong Kong Method for detecting chromosomal aneuploidy
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