Title:
METHODS AND SYSTEMS FOR DETECTING GENETIC VARIANTS
Document Type and Number:
Japanese Patent JP2022031905
Kind Code:
A
Abstract:
To provide methods and systems for determining genetic variants (e.g.copy number variation) in a polynucleotide sample.SOLUTION: A method for determining copy number variations includes tagging double-stranded polynucleotides with duplex tags, sequencing polynucleotides derived 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.SELECTED DRAWING: None
Inventors:
HELMY ELTOUKHY
AMIRALI TALASAZ
AMIRALI TALASAZ
Application Number:
JP2021200633A
Publication Date:
February 22, 2022
Filing Date:
December 10, 2021
Export Citation:
Assignee:
GUARDANT HEALTH INC
International Classes:
C12Q1/68; C12M1/00; C12N15/09; C12N15/12; C12Q1/6806; C12Q1/6844; C12Q1/6869
Attorney, Agent or Firm:
Shusaku Yamamoto
Morishita Natsuki
Takatoshi Iida
Daisuke Ishikawa
Kensaku Yamamoto
Morishita Natsuki
Takatoshi Iida
Daisuke Ishikawa
Kensaku Yamamoto