Genetic variant map is the foundation of the history of the crowd, medical genetics, genotype - phenotype. Previously, most of the whole genome sequencing related studies were mainly concentrated in the European blood population.
Studies have shown that rare and low frequency variants are often specific in crowds or samples, especially those related to disease. The lack of genome sequencing resources and haplotype reference panels hinders the genetic and accurate medical research of the world's largest population in the world.
To this end, the academician of the Chinese Academy of Sciences, the founder of the Chinese Academy of Biophysiological Institute, the team, the researcher He Shimin team, published an article online on Cell Reports, introduced the team about & quot; female 娲 & quot; (NYUWA) China Group Genome Resource Bank Providing genetic variability and reference panel genotype deduction services for Chinese populations, aiming to promote the genetic and medical research of Chinese people.
The research team analyzes 2999 Chinese allocyte depth sequencing data (26.2x), and is named & ldquo; female 娲 & rdquo; named.
NYUWA total genome sequencing resources variation
Based on NYUWA data resources, research has constructed a Chinese population genetic variant map containing 710,600 SNPS and 819 million INDELS, and a comprehensive annotation.Compared to other people group queues, NYUWA data sets contain 250,100 new variations, including 149,000 unambiguous variations, 101,000 harmful variations, 11493 encoding and non-encoded genes, and 636 cancer-related genes.. Mutations.
A large number of new variations show that in the past genetic research, the variation of the Chinese population has been lacking, and the NYUWA genome has filled this empty lack.
In addition, according to the annotation of the clinical related database, 1140 pathogenic variations were found in NYUWA, as well as the variation of the variation of the Chinese people and other people in the world. These findings help Chinese people precision medical research may promote new genetics and medical progress.
Compared with other reference panels,The NYUWA Reference panel reduces the error rate of Han population genotypes by 30% -51%, and has excellent performance in most other East Asia and Northeast Asians.