NyuWa Genome resource: A deep whole-genome sequencing-based variation profile and reference panel for the Chinese population

AbstractThe lack of Chinese population specific haplotype reference panel and whole genome sequencing resources has greatly hindered the genetics studies in the world’s largest population. Here we presented the NyuWa genome resource of 71.1M SNPs and 8.2M indels based on deep (26.2X) sequencing of 2,999 Chinese individuals, and constructed NyuWa reference panel of 5,804 haplotypes and 19.3M variants, which is the first publicly available Chinese population specific reference panel with thousands of samples. There were 25.0M novel variants in NyuWa genome resource, and 3.2M specific variants in NyuWa reference panel. Compared with other panels, NyuWa reference panel reduces the Han Chinese imputation error rate by the range of 30% to 51%. Population structure and imputation simulation tests supported the applicability of one integrated reference panel for both northern and southern Chinese. In addition, a total of 22,504 loss-of-function variants in coding and noncoding genes were identified, including 11,493 novel variants. These results highlight the value of NyuWa genome resource to facilitate genetics research in Chinese and Asian populations.

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Rare variants discovery by extensive whole-genome sequencing of the Han Chinese population in Taiwan: applications to cardiovascular medicine

Journal of Advanced Research ◽

10.1016/j.jare.2020.12.003 ◽

2020 ◽

Author(s):

Jyh-Ming Jimmy Juang ◽

Tzu-Pin Lu ◽

Ming-Wei Su ◽

Chien-Wei Lin ◽

Jenn-Hwai Yang ◽

...

Keyword(s):

Whole Genome Sequencing ◽

Genome Sequencing ◽

Chinese Population ◽

Rare Variants ◽

Han Chinese ◽

Whole Genome ◽

Cardiovascular Medicine ◽

Han Chinese Population

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Identification of genetic risk factors for Alzheimer's disease in the Chinese population by whole-genome sequencing

10.14711/thesis-991012654968703412 ◽

2018 ◽

Author(s):

Xiaopu Zhou

Keyword(s):

Risk Factors ◽

Whole Genome Sequencing ◽

Genome Sequencing ◽

Genetic Risk ◽

Chinese Population ◽

Genetic Risk Factors ◽

Whole Genome

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Identification of a novel heterozygous SPTB mutation by whole genome sequencing in a Chinese patient with hereditary spherocytosis and atrial septal defect: a case report

BMC Pediatrics ◽

10.1186/s12887-021-02771-4 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Zhanhui Du ◽

Gang Luo ◽

Kuiliang Wang ◽

Zhen Bing ◽

Silin Pan

Keyword(s):

Atrial Septal Defect ◽

Whole Genome Sequencing ◽

Genome Sequencing ◽

Chinese Population ◽

Septal Defect ◽

Hereditary Spherocytosis ◽

Valuable Insight ◽

Whole Genome ◽

Biochemical Tests ◽

Chinese Girl

Abstract Background Hereditary spherocytosis (HS) is a common inherited red blood cell membrane disorder characterized by an abnormal increase of spherocytes in peripheral blood. SPTB gene mutation is one of the most common causes of HS; however, few cases of HS resulting from SPTB mutation in the Chinese population have been reported so far. Case presentation A 3-year-old Chinese girl presented to Qingdao Women and Children’s Hospital, Qingdao University, with atrial septal defect (ASD). Meanwhile, she was clinically diagnosed with HS. Whole genome sequencing (WGS) was performed for the proband and her parents for genetic molecular analysis. A novel SPTB mutation (c.1756delG) was detected by WGS and confirmed by Sanger sequencing in the proband. This mutation results in a frameshift with a premature termination codon in exon 12, leading to a nonsense mutation (p.Ala586Profs*7). Her parents had no similar symptoms, and blood routine and serum biochemical tests showed no significant abnormalities. The patient’s mother did not know of any relatives with HS-like symptoms. Percutaneous transcatheter closure was successfully performed for treating the ASD. Conclusion In this study, we identified a novel SPTB frameshift mutation in a Chinese girl with HS. This finding would expand the spectrum of SPTB mutations, provide a valuable insight into the genotyping of HS in the Chinese population, and contribute to the clinical management and genetic counseling in HS.

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