AU2020286376A1 - Limit of detection based quality control metric - Google Patents

Limit of detection based quality control metric Download PDF

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Publication number
AU2020286376A1
AU2020286376A1 AU2020286376A AU2020286376A AU2020286376A1 AU 2020286376 A1 AU2020286376 A1 AU 2020286376A1 AU 2020286376 A AU2020286376 A AU 2020286376A AU 2020286376 A AU2020286376 A AU 2020286376A AU 2020286376 A1 AU2020286376 A1 AU 2020286376A1
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AU
Australia
Prior art keywords
sequence
fetal fraction
coverage
samples
sample
Prior art date
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
Abandoned
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AU2020286376A
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English (en)
Inventor
Cosmin Deciu
Sarah L. KINNINGS
Badri Padhukasahasram
Dimitri Skvortsov
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Illumina Inc
Original Assignee
Illumina Inc
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Illumina Inc filed Critical Illumina Inc
Publication of AU2020286376A1 publication Critical patent/AU2020286376A1/en
Abandoned legal-status Critical Current

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    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/10Ploidy or copy number detection
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10Sequence alignment; Homology search
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/20Sequence assembly
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B40/00ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • G16B40/20Supervised data analysis
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B40/00ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • G16B40/30Unsupervised 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)
AU2020286376A 2019-06-03 2020-06-02 Limit of detection based quality control metric Abandoned AU2020286376A1 (en)

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

Publications (1)

Publication Number Publication Date
AU2020286376A1 true AU2020286376A1 (en) 2021-04-22

Family

ID=71842782

Family Applications (1)

Application Number Title Priority Date Filing Date
AU2020286376A Abandoned AU2020286376A1 (en) 2019-06-03 2020-06-02 Limit of detection based quality control metric

Country Status (8)

Country Link
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=)

Families Citing this family (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
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

Family Cites Families (18)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
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
US10095831B2 (en) 2016-02-03 2018-10-09 Verinata Health, Inc. Using cell-free DNA fragment size to determine copy number variations
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

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
CN112823391B (zh) 2024-07-05
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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Legal Events

Date Code Title Description
MK1 Application lapsed section 142(2)(a) - no request for examination in relevant period