CN112823391B - 基于检测限的质量控制度量 - Google Patents

基于检测限的质量控制度量 Download PDF

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Publication number
CN112823391B
CN112823391B CN202080005447.1A CN202080005447A CN112823391B CN 112823391 B CN112823391 B CN 112823391B CN 202080005447 A CN202080005447 A CN 202080005447A CN 112823391 B CN112823391 B CN 112823391B
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fetal fraction
sequence
coverage
fetal
sample
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CN112823391A (zh
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萨拉·L·金宁斯
科斯明·德丘
巴德里·帕杜卡萨哈斯拉姆
迪米特里·斯库沃佐夫
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Illumina Inc
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Illumina Inc
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    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/10—Ploidy or copy number detection
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10—Sequence alignment; Homology search
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/20—Sequence assembly
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • G16B40/20—Supervised data analysis
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • G16B40/30—Unsupervised data analysis

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  • Engineering & Computer Science (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Health & Medical Sciences (AREA)
  • Medical Informatics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Biophysics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Biotechnology (AREA)
  • Evolutionary Biology (AREA)
  • General Health & Medical Sciences (AREA)
  • Theoretical Computer Science (AREA)
  • Data Mining & Analysis (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Analytical Chemistry (AREA)
  • Chemical & Material Sciences (AREA)
  • Artificial Intelligence (AREA)
  • Bioethics (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Databases & Information Systems (AREA)
  • Epidemiology (AREA)
  • Evolutionary Computation (AREA)
  • Public Health (AREA)
  • Software Systems (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Medical Treatment And Welfare Office Work (AREA)
CN202080005447.1A 2019-06-03 2020-06-02 基于检测限的质量控制度量 Active CN112823391B (zh)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201962856651P 2019-06-03 2019-06-03
US62/856,651 2019-06-03
PCT/US2020/035787 WO2020247411A1 (en) 2019-06-03 2020-06-02 Limit of detection based quality control metric

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CN112823391A CN112823391A (zh) 2021-05-18
CN112823391B true CN112823391B (zh) 2024-07-05

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US (1) US12260935B2 (https=)
EP (1) EP3977459A1 (https=)
JP (1) JP7506060B2 (https=)
KR (1) KR20220013349A (https=)
CN (1) CN112823391B (https=)
AU (1) AU2020286376A1 (https=)
CA (1) CA3115513A1 (https=)
WO (1) WO2020247411A1 (https=)

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JP2023552015A (ja) * 2020-12-02 2023-12-14 イルミナ ソフトウェア， インコーポレイテッド 遺伝子変異を検出するためのシステム及び方法
CN113643755B (zh) * 2021-08-11 2023-10-13 上海小海龟科技有限公司 一种nipt试剂盒阳性率校正方法、装置、计算机设备和介质
CN117095745B (zh) * 2022-12-28 2025-12-12 安诺优达基因科技(北京)有限公司 用于检测孕妇血浆游离dna中胎儿非整倍体和拷贝数变异的方法和装置及应用
SK289398B6 (sk) * 2023-05-25 2026-01-14 Medirex Group Academy N.O. Metóda detekcie vzoriek s nedostatočným množstvom fragmentov fetálnej a cirkulujúcej nádorovej DNA na neinvazívne genetické testovanie

Citations (1)

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CN108884491A (zh) * 2016-02-03 2018-11-23 维里纳塔健康公司 使用无细胞dna片段尺寸以确定拷贝数变异

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CA2615323A1 (en) 2005-06-06 2007-12-21 454 Life Sciences Corporation Paired end sequencing
US9163229B2 (en) 2006-10-10 2015-10-20 Trovagene, Inc. Compositions, methods and kits for isolating nucleic acids from body fluids using anion exchange media
US9029103B2 (en) 2010-08-27 2015-05-12 Illumina Cambridge Limited Methods for sequencing polynucleotides
CN204440396U (zh) 2012-04-12 2015-07-01 维里纳塔健康公司 用于确定胎儿分数的试剂盒
WO2014151117A1 (en) * 2013-03-15 2014-09-25 The Board Of Trustees Of The Leland Stanford Junior University Identification and use of circulating nucleic acid tumor markers
KR102665592B1 (ko) 2013-05-24 2024-05-21 시쿼넘, 인코포레이티드 유전적 변이의 비침습 평가를 위한 방법 및 프로세스
ES3037160T3 (en) 2013-06-21 2025-09-29 Sequenom Inc Methods and processes for non-invasive assessment of genetic variations
CN105830077B (zh) * 2013-10-21 2019-07-09 维里纳塔健康公司 用于在确定拷贝数变异中改善检测的灵敏度的方法
CA2945962C (en) 2014-04-21 2023-08-29 Natera, Inc. Detecting mutations and ploidy in chromosomal segments
EP3730629A1 (en) * 2014-10-10 2020-10-28 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
AU2015367290A1 (en) 2014-12-16 2017-05-11 Garvan Institute Of Medical Research Sequencing controls
HUE058263T2 (hu) 2015-02-10 2022-07-28 Univ Hong Kong Chinese Mutációk detektálása rákszûrési és magzatelemzési célból
WO2017093561A1 (en) 2015-12-04 2017-06-08 Genesupport Sa Method for non-invasive prenatal testing
CA3016077A1 (en) 2016-03-22 2017-09-28 Counsyl, Inc. Combinatorial dna screening
WO2018064486A1 (en) 2016-09-29 2018-04-05 Counsyl, Inc. Noninvasive prenatal screening using dynamic iterative depth optimization
WO2019025004A1 (en) 2017-08-04 2019-02-07 Trisomytest, S.R.O. METHOD FOR NON-INVASIVE PRENATAL DETECTION OF FETUS SEX CHROMOSOMAL ABNORMALITY AND FETUS SEX DETERMINATION FOR SINGLE PREGNANCY AND GEEMELLAR PREGNANCY
GB2615975B (en) * 2019-02-14 2023-11-29 Mirvie Inc Methods and systems for determining a pregnancy-related state of a subject

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Also Published As

Publication number Publication date
JP2022534634A (ja) 2022-08-03
WO2020247411A1 (en) 2020-12-10
KR20220013349A (ko) 2022-02-04
CA3115513A1 (en) 2020-12-10
AU2020286376A1 (en) 2021-04-22
US20210366569A1 (en) 2021-11-25
EP3977459A1 (en) 2022-04-06
CN112823391A (zh) 2021-05-18
US12260935B2 (en) 2025-03-25
JP7506060B2 (ja) 2024-06-25

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