SG10201804519RA - Methods and systems for detecting genetic variants - Google Patents

Methods and systems for detecting genetic variants

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Publication number
SG10201804519RA
SG10201804519RA SG10201804519RA SG10201804519RA SG10201804519RA SG 10201804519R A SG10201804519R A SG 10201804519RA SG 10201804519R A SG10201804519R A SG 10201804519RA SG 10201804519R A SG10201804519R A SG 10201804519RA SG 10201804519R A SG10201804519R A SG 10201804519RA
Authority
SG
Singapore
Prior art keywords
polynucleotides
systems
methods
genetic variants
reads
Prior art date
Application number
SG10201804519RA
Inventor
Helmy Eltoukhy
Amirali Talasaz
Original Assignee
Guardant Health Inc
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Publication date
Family has litigation
Priority to US201361921456P priority Critical
Priority to US201461948509P priority
Application filed by Guardant Health Inc filed Critical Guardant Health Inc
Publication of SG10201804519RA publication Critical patent/SG10201804519RA/en
First worldwide family litigation filed litigation Critical https://patents.darts-ip.com/?family=53479708&utm_source=google_patent&utm_medium=platform_link&utm_campaign=public_patent_search&patent=SG10201804519R(A) "Global patent litigation dataset” by Darts-ip is licensed under a Creative Commons Attribution 4.0 International License.

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    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6869Methods for sequencing
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • C12Q1/6886Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2535/00Reactions characterised by the assay type for determining the identity of a nucleotide base or a sequence of oligonucleotides
    • C12Q2535/122Massive parallel sequencing
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/158Expression markers
    • 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
    • G16B15/00ICT specially adapted for analysing two-dimensional or three-dimensional molecular structures, e.g. structural or functional relations or structure alignment

Abstract

METHODS AND SYSTEMS FOR DETECTING GENETIC VARIANTS Disclosed herein in are methods and systems for determining genetic variants (e.g., copy number variation) in a polynucleotide sample. A method for determining copy number variations includes tagging double-stranded polynucleotides with duplex tags, sequencing polynucleotides from the sample and estimating total number of polynucleotides mapping to selected genetic loci. The estimate of total number of polynucleotides can involve estimating the number of double-stranded polynucleotides in the original sample for which no sequence reads are generated. This number can be generated using the number of polynucleotides for which reads for both complementary strands are detected and reads for which only one of the two complementary strands is detected. Fig. 98
SG10201804519RA 2013-12-28 2014-12-24 Methods and systems for detecting genetic variants SG10201804519RA (en)

Priority Applications (2)

Application Number Priority Date Filing Date Title
US201361921456P true 2013-12-28 2013-12-28
US201461948509P true 2014-03-05 2014-03-05

Publications (1)

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SG10201804519RA true SG10201804519RA (en) 2018-07-30

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SG10201804519RA SG10201804519RA (en) 2013-12-28 2014-12-24 Methods and systems for detecting genetic variants
SG11201604923XA SG11201604923XA (en) 2013-12-28 2014-12-24 Methods and systems for detecting genetic variants

Family Applications After (1)

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Country Status (9)

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US (7) US9920366B2 (en)
EP (4) EP3524694B1 (en)
JP (3) JP6571665B2 (en)
CN (2) CN111534580A (en)
AU (3) AU2014369841B2 (en)
CA (1) CA2934822A1 (en)
ES (3) ES2822125T3 (en)
SG (2) SG10201804519RA (en)
WO (1) WO2015100427A1 (en)

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