JP2022550841A - 単一細胞分析を使用して改善されたバリアントコーラー - Google Patents

単一細胞分析を使用して改善されたバリアントコーラー Download PDF

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JP2022550841A
JP2022550841A JP2022520391A JP2022520391A JP2022550841A JP 2022550841 A JP2022550841 A JP 2022550841A JP 2022520391 A JP2022520391 A JP 2022520391A JP 2022520391 A JP2022520391 A JP 2022520391A JP 2022550841 A JP2022550841 A JP 2022550841A
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base
sequence reads
interest
bases
cell
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マニモジ マニヴァナン
ドンミョンヒ キム
ソンビート サフ
サウラブ グラティ
シュ ワン
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ミッション バイオ インコーポレイテッド
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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
    • 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
    • G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] 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
    • 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
    • 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

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JP2022520391A 2019-10-02 2020-10-02 単一細胞分析を使用して改善されたバリアントコーラー Pending JP2022550841A (ja)

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US201962909670P 2019-10-02 2019-10-02
US62/909,670 2019-10-02
PCT/US2020/053971 WO2021067721A1 (en) 2019-10-02 2020-10-02 Improved variant caller using single-cell analysis

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JP2022550841A true JP2022550841A (ja) 2022-12-05
JP2022550841A5 JP2022550841A5 (https=) 2023-10-02

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US (1) US20220351804A1 (https=)
EP (1) EP4042429A4 (https=)
JP (1) JP2022550841A (https=)
CN (1) CN114766056A (https=)
AU (1) AU2020358083A1 (https=)
CA (1) CA3153208A1 (https=)
WO (1) WO2021067721A1 (https=)

Families Citing this family (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2023196928A2 (en) * 2022-04-06 2023-10-12 Mission Bio, Inc. True variant identification via multianalyte and multisample correlation
CN120813690A (zh) * 2022-10-25 2025-10-17 康奈尔大学 核酸误差抑制
CN117523559B (zh) * 2024-01-08 2024-03-29 深圳赛陆医疗科技有限公司 碱基识别方法及装置、基因测序仪及存储介质

Citations (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20130110407A1 (en) * 2011-09-16 2013-05-02 Complete Genomics, Inc. Determining variants in genome of a heterogeneous sample
WO2018136888A1 (en) * 2017-01-20 2018-07-26 Sequenom, Inc. Methods for non-invasive assessment of genetic alterations
WO2019013534A1 (ko) * 2017-07-11 2019-01-17 주식회사 엘지화학 이차전지의 불량 검사 장치 및 불량 검사 방법
WO2019108555A1 (en) * 2017-11-28 2019-06-06 Crail, Inc. Models for targeted sequencing
US10354747B1 (en) * 2016-05-06 2019-07-16 Verily Life Sciences Llc Deep learning analysis pipeline for next generation sequencing

Family Cites Families (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20150073724A1 (en) * 2013-07-29 2015-03-12 Agilent Technologies, Inc Method for finding variants from targeted sequencing panels

Patent Citations (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20130110407A1 (en) * 2011-09-16 2013-05-02 Complete Genomics, Inc. Determining variants in genome of a heterogeneous sample
US10354747B1 (en) * 2016-05-06 2019-07-16 Verily Life Sciences Llc Deep learning analysis pipeline for next generation sequencing
WO2018136888A1 (en) * 2017-01-20 2018-07-26 Sequenom, Inc. Methods for non-invasive assessment of genetic alterations
WO2019013534A1 (ko) * 2017-07-11 2019-01-17 주식회사 엘지화학 이차전지의 불량 검사 장치 및 불량 검사 방법
WO2019108555A1 (en) * 2017-11-28 2019-06-06 Crail, Inc. Models for targeted sequencing

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CN114766056A (zh) 2022-07-19
EP4042429A1 (en) 2022-08-17
WO2021067721A1 (en) 2021-04-08
CA3153208A1 (en) 2021-04-08
US20220351804A1 (en) 2022-11-03
EP4042429A4 (en) 2023-10-25
AU2020358083A1 (en) 2022-05-26

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