HUMAN HAPLOTYPING SYSTEM AND METHOD

WIPO Patent Application WO/2018/021636

A1

The present invention relates to human haplotyping having improved accuracy and efficiency in detecting, through a computerized system, a genotype for identifying human genetic characteristics. The present invention comprises: a sequence read collection step of collecting the sequence of a gene to be examined; a sequence read alignment step of matching the collected sequence read to the reference stored in database and aligning the same; an allele selection step of selecting candidate alleles among reference alleles; and an allele determination step of determining a final allele among the candidate alleles. The present invention carries out haplotyping by using short sequence reads on the basis of alignment-based approach, can improve the selection efficiency of candidate alleles, and has an effect of enabling false alleles caused by phase issues to be detected by applying a unique read operation algorithm.

LEE SUNHO (KR)
KA SOJEONG (KR)
HONG JONGHUI (KR)
CHO YANGRAE (KR)
JUNG JONGSUN (KR)

PCT/KR2016/015428

February 01, 2018

December 28, 2016

Click for automatic bibliography generation  

SYNTEKABIO CO LTD (KR)

G16B5/00; G16B25/00; G16B50/30

KR20090105921A	2009-10-07
US20140045706A1	2014-02-13

BAI: "Inference of high resolution HLA types using genome-wide RNA or DNA sequencing reads", BMC GENOMICS, vol. 15, 2014, pages 1 - 16, XP021184302
NARIAI TF: "HLA-VBSeq: accurate HLA typing at full resolution from whole-genome sequencing data", BMC GENOMICS, vol. 16, 2015, pages 1 - 6, XP021209052
HUANG: "HLAreporter: a tool for HLA typing from next generation sequencing data", GENOME MEDICINE, vol. 7, 2015, pages 1 - 12, XP021215655

KWON, Hyung Seok (KR)

View/Download PDF      PDF Help

Previous Patent: CONTINUOUS CASTING ABNORMALITY PREDICTION DEVICE

Next Patent: COMPOSITION INCLUDING NUCLEIC ACID AND CHITOSAN, FOR REPAIRING ROTATOR CUFF TEAR