Title:
遺伝的バリアントを検出するための方法およびシステム
Document Type and Number:
Japanese Patent JP7242609
Kind Code:
B2
Abstract:
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.
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Inventors:
Helmy El Torquay
Amil Ali Tarasas
Amil Ali Tarasas
Application Number:
JP2020103559A
Publication Date:
March 20, 2023
Filing Date:
June 16, 2020
Export Citation:
Assignee:
Guardant Health, Incorporated
International Classes:
C12Q1/6869; C12N15/11; C12Q1/6844; C12Q1/6883; C12Q1/6886; G01N33/50
Domestic Patent References:
| JP6571665B2 |
Foreign References:
| US20070172873 |
Other References:
PNAS,2012年08月01日,Vol. 109, No. 36,p. 14508-14513, Supporting Information
Attorney, Agent or Firm:
Shusaku Yamamoto
Morishita Natsuki
Takatoshi Iida
Daisuke Ishikawa
Kensaku Yamamoto
Morishita Natsuki
Takatoshi Iida
Daisuke Ishikawa
Kensaku Yamamoto