AU2020358083A1 - Improved variant caller using single-cell analysis - Google Patents

Improved variant caller using single-cell analysis Download PDF

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Publication number
AU2020358083A1
AU2020358083A1 AU2020358083A AU2020358083A AU2020358083A1 AU 2020358083 A1 AU2020358083 A1 AU 2020358083A1 AU 2020358083 A AU2020358083 A AU 2020358083A AU 2020358083 A AU2020358083 A AU 2020358083A AU 2020358083 A1 AU2020358083 A1 AU 2020358083A1
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AU
Australia
Prior art keywords
base
sequence reads
interest
calls
cell
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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AU2020358083A
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English (en)
Inventor
Saurabh GULATI
Dongmyunghee KIM
Manimozhi MANIVANNAN
Sombeet SAHU
Shu Wang
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.)
Mission Bio Inc
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Mission Bio Inc
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Publication date
Application filed by Mission Bio Inc filed Critical Mission Bio Inc
Publication of AU2020358083A1 publication Critical patent/AU2020358083A1/en
Abandoned legal-status Critical Current

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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
    • G16B20/20—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
    • 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
    • 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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  • 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)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
AU2020358083A 2019-10-02 2020-10-02 Improved variant caller using single-cell analysis Abandoned AU2020358083A1 (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
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

Publications (1)

Publication Number Publication Date
AU2020358083A1 true AU2020358083A1 (en) 2022-05-26

Family

ID=75336484

Family Applications (1)

Application Number Title Priority Date Filing Date
AU2020358083A Abandoned AU2020358083A1 (en) 2019-10-02 2020-10-02 Improved variant caller using single-cell analysis

Country Status (7)

Country Link
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

Family Cites Families (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2013040583A2 (en) * 2011-09-16 2013-03-21 Complete Genomics, Inc Determining variants in a genome of a heterogeneous sample
US20150073724A1 (en) * 2013-07-29 2015-03-12 Agilent Technologies, Inc Method for finding variants from targeted sequencing panels
US10354747B1 (en) * 2016-05-06 2019-07-16 Verily Life Sciences Llc Deep learning analysis pipeline for next generation sequencing
CA3049682C (en) * 2017-01-20 2023-06-27 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
JP2021503922A (ja) * 2017-11-28 2021-02-15 グレイル， インコーポレイテッドＧｒａｉｌ， Ｉｎｃ． ターゲットシーケンシングのためのモデル

Also Published As

Publication number Publication date
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
JP2022550841A (ja) 2022-12-05
EP4042429A4 (en) 2023-10-25

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Legal Events

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