Back to Search
Start Over
Structural variants in the Chinese population and their impact on phenotypes, diseases and population adaptation
- Source :
- Nature Communications, Nature Communications, Vol 12, Iss 1, Pp 1-12 (2021)
- Publication Year :
- 2021
- Publisher :
- Nature Publishing Group UK, 2021.
-
Abstract
- A complete characterization of genetic variation is a fundamental goal of human genome research. Long-read sequencing has improved the sensitivity of structural variant discovery. Here, we conduct the long-read sequencing-based structural variant analysis for 405 unrelated Chinese individuals, with 68 phenotypic and clinical measurements. We discover a landscape of 132,312 nonredundant structural variants, of which 45.2% are novel. The identified structural variants are of high-quality, with an estimated false discovery rate of 3.2%. The concatenated length of all the structural variants is approximately 13.2% of the human reference genome. We annotate 1,929 loss-of-function structural variants affecting the coding sequence of 1,681 genes. We discover rare deletions in HBA1/HBA2/HBB associated with anemia. Furthermore, we identify structural variants related to immunity which differentiate the northern and southern Chinese populations. Our study describes the landscape of structural variants in the Chinese population and their contribution to phenotypes and disease.<br />Although many studies have characterized genetic variation in human populations, few have investigated structural variation and few have been in non-European populations. Here, the authors have performed long read sequencing on 405 Chinese individuals to identify structural variants and link them to phenotypes.
- Subjects :
- Adult
Male
Genotype
Population genetics
Science
Population
General Physics and Astronomy
Biology
General Biochemistry, Genetics and Molecular Biology
Article
Structural variation
Open Reading Frames
Young Adult
Loss of Function Mutation
Genetic variation
Coding region
Humans
education
Gene
Aged
Genetics
Aged, 80 and over
Glycated Hemoglobin
education.field_of_study
Multidisciplinary
Genome, Human
Genetic Variation
General Chemistry
Middle Aged
Phenotype
Human genome
Female
Reference genome
Subjects
Details
- Language :
- English
- ISSN :
- 20411723
- Volume :
- 12
- Database :
- OpenAIRE
- Journal :
- Nature Communications
- Accession number :
- edsair.doi.dedup.....c6374aa48faa9c59841b911e10fe5572