SAGE: a comprehensive resource of genetic variants integrating South Asian whole genomes and exomes
| Autor: | Rijith Jayarajan, Vishal Dixit, Shamsudheen Karuthedath Vellarikkal, Judith Mary Hariprakash, Vigneshwar Senthivel, Paras Sehgal, Ankit Verma, Vijayalakshmi Mahadevan, Vinod Scaria, Ambily Sivadas, Sridhar Sivasubbu, Anoop Kumar, Anop Singh Ranawat, Rowmika Ravi, Atul Kashyap |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
030105 genetics & heredity Genome General Biochemistry Genetics and Molecular Biology 03 medical and health sciences Asian People Gene Frequency Genetic variation Databases Genetic Humans Exome Allele frequency Exome sequencing Molecular Epidemiology Genome Human Publications Genetic Variation Molecular Sequence Annotation Genome project 030104 developmental biology Geography Genetic epidemiology Evolutionary biology Human genome General Agricultural and Biological Sciences Information Systems |
| Zdroj: | Database : the journal of biological databases and curation. 2018 |
| ISSN: | 1758-0463 |
| Popis: | South Asia is home to $\sim $20% of the world population and characterized by distinct ethnic, linguistic, cultural and genetic lineages. Only limited representative samples from the region have found its place in large population-scale international genome projects. The recent availability of genome scale data from multiple populations and datasets from South Asian countries in public domain motivated us to integrate the data into a comprehensive resource. In the present study, we have integrated a total of six datasets encompassing 1213 human exomes and genomes to create a compendium of 154 814 557 genetic variants and adding a total of 69 059 255 novel variants. The variants were systematically annotated using public resources and along with the allele frequencies are available as a browsable-online resource South Asian genomes and exomes. As a proof of principle application of the data and resource for genetic epidemiology, we have analyzed the pathogenic genetic variants causing retinitis pigmentosa. Our analysis reveals the genetic landscape of the disease and suggests subset of genetic variants to be highly prevalent in South Asia. |
| Databáze: | OpenAIRE |
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