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Title:
無細胞核酸から得られた配列分析データに係わる背景対立因子の頻度分布を生成する方法、及びそれを利用して無細胞核酸から変異を検出する方法
Document Type and Number:
Japanese Patent JP6980907
Kind Code:
B2
Abstract:
Provided are a method for generating a distribution of background allele frequency in sequencing data obtained from a cell-free nucleic acid, a frequency distribution matrix of background alleles obtained by the method, and a method of detecting a variation in the cell-free nucleic acid using the matrix. According to the method, to remove germline variations, sequencing data of a nucleic acid isolated from a cell of a test subject itself may be used to generate a distribution of background allele frequency in the sequencing data obtained from the cell-free nucleic acid, and thus there are advantages in terms of reducing costs and time.

Inventors:
Park, Eun Yang
Park, Dong Hyun
Son, Tae Sung
Application Number:
JP2020515641A
Publication Date:
December 15, 2021
Filing Date:
April 17, 2018
Export Citation:
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Assignee:
Geninas Co., Ltd.
International Classes:
C12Q1/6869; C12Q1/68; G16B45/00
Other References:
Journal of Molecular Diagnostics,2012年,vol.14, no.4,p.346-356
Attorney, Agent or Firm:
Sonoda/Kobayashi Patent Business Corporation