Title:
多型カウントを用いたゲノム画分の分析
Document Type and Number:
Japanese Patent JP6268153
Kind Code:
B2
Abstract:
Methods of reliably estimating genomic fraction (e.g., fetal fraction) from polymorphisms such as small base variations or insertions-deletions are disclosed. Sequenced data from a multigenomic source is used to determine allele counts for one or more of the polymorphisms. For one or more of the polymorphisms, zygosity is assigned, and genomic fraction is determined from the zygosity and allele counts. Certain embodiments employ SNPs as the relevant polymorphism. The disclosed methods can be applied as part of an intentional, pre-designed re-sequencing study targeted against known polymorphisms or can be used in a retrospective analysis of variations found by coincidence in overlapping sequences generated from maternal plasma (or any other setting where a mixture of DNA from several people are present).
Inventors:
Lava Richard P.
Leeds Bryan Kay.
Burke John Pee.
Leeds Bryan Kay.
Burke John Pee.
Application Number:
JP2015249239A
Publication Date:
January 24, 2018
Filing Date:
December 22, 2015
Export Citation:
Assignee:
Belinata Health Incorporated
International Classes:
C12Q1/68; G16B20/20; C12M1/00; G16B20/10; G16B30/10; G16B40/00; G16B45/00
Domestic Patent References:
| JP2006508632A | ||||
| JP2013509884A |
Attorney, Agent or Firm:
Hatsushi Shimizu
Masao Haruna
Hirotaka Yamaguchi
Toshi Gobe
Ryuichi Inoue
Toshimitsu Sato
Koichi Niimi
Tomohiko Kobayashi
Masato Ozeki
Yoshihiro Igarashi
Kazuya Kawamoto
Masao Haruna
Hirotaka Yamaguchi
Toshi Gobe
Ryuichi Inoue
Toshimitsu Sato
Koichi Niimi
Tomohiko Kobayashi
Masato Ozeki
Yoshihiro Igarashi
Kazuya Kawamoto