Title:
METHOD FOR GENOTYPING ON THE BASIS OF LOW-DEPTH GENOME SEQUENCING, DEVICE AND USE
Document Type and Number:
WIPO Patent Application WO/2019/047181
Kind Code:
A1
Abstract:
Provided is a method for genotyping on the basis of low-depth genome sequencing. The method comprises: (a) performing low-depth genome sequencing on the whole genome of a sample to be tested in order to obtain a sequencing result consisting of a plurality of sequencing data; (b) for at least one known variant site, constructing a reference sequence set of the known variant site, the reference sequence set comprising the variant type of the known variant site, and upstream and downstream sequences of the variant site; (c) comparing the sequencing result obtained in step (a) with the reference sequence set so as to determine a comparison result for each known variant site, the comparison result comprising a matching variant type of the sequencing result and the number of matches of the matching variant type; and (d) determining a high-probability variant type of the known variation site on the basis of the comparison result.
Inventors:
GUO RUIDONG (CN)
JIA CHAO (CN)
JIA CHAO (CN)
Application Number:
PCT/CN2017/101128
Publication Date:
March 14, 2019
Filing Date:
September 08, 2017
Export Citation:
Assignee:
BGI SHENZHEN (CN)
International Classes:
C12Q1/68
Foreign References:
| CN106755300A | 2017-05-31 |
Other References:
BROUARD JS: "Low-depth genotyping-by-sequencing (GBS) in a bovine population: strategies to maximize the selection of high quality genotypes and the accuracy of imputation", BMC GENETICS, vol. 18, no. 1, 5 April 2017 (2017-04-05), pages 1 - 14, XP055581813
Attorney, Agent or Firm:
TSINGYIHUA INTELLECTUAL PROPERTY LLC (CN)
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