SAGE: a comprehensive resource of genetic variants integrating South Asian whole genomes and exomes.

Clicks: 355
ID: 40531
2018
Article Quality & Performance Metrics
Overall Quality
Not rated
Combines reader engagement with the AI quality analysis. This article has not been analysed, so there is no overall score — reader engagement is measured and shown alongside.
AI Quality Assessment
Not analyzed
Readership in this journal
Emerging

Ranked #10 of 66 articles by views in Database : the journal of biological databases and curation

Most read Least read

Bar heights use a square-root scale.

Mint this article as an NFT
Not yet minted

Create a permanent, verifiable on-chain record of this article on the Scimatic Network. The NFT is held in your Journament account, and you can withdraw it to your own wallet at any time.

5 SUSD one-off · no wallet required
Sign in to mint
Abstract
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.
Reference Key
hariprakash2018sagedatabase Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Hariprakash, Judith Mary;Vellarikkal, Shamsudheen Karuthedath;Verma, Ankit;Ranawat, Anop Singh;Jayarajan, Rijith;Ravi, Rowmika;Kumar, Anoop;Dixit, Vishal;Sivadas, Ambily;Kashyap, Atul Kumar;Senthivel, Vigneshwar;Sehgal, Paras;Mahadevan, Vijayalakshmi;Scaria, Vinod;Sivasubbu, Sridhar;
Journal Database : the journal of biological databases and curation
Year 2018
DOI
10.1093/database/bay080
URL
Keywords Keywords not found

Citations

No citations found. To add a citation, contact the admin at info@scimatic.org

Comments

No comments yet. Be the first to comment on this article.