SAGE is a comprehensive repertoire of genome and exome information from South Asians. We have integrated 6 datasets encompassing 1213 human genome and exome data to create a compendium of 154 million genetic variants. The resource has immense applications in understanding the allelic frequencies, carrier rates for rare genetic diseases and genetic traits including pharmacogenetics, apart from prioritising and discovering novel disease associated variants. The variants were systematically annotated, integrated with other public databases and and allele frequencies are available in this browsable resource. To know more please look in to the FAQ section.
Example Search:
| Variant | 1-8044990-A-C 14:24731434:G:T |
| Gene | TSPAN6 R3HCC1L |
| Region | 11-116707837-116707837 4-24801834-24801834 |
| dbSNP ID | rs80084721 rs121434556 |
The data set provided on this website encompasses 1213 unrelated individuals sequenced as part of various population-genetic as well as disease-specific studies. The datasets derived for the present version of the resource is listed here..
1000 Genomes Project Consortium., Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR
A global
reference for human genetic variation.
Nature. 2015 Oct 1;526(7571):68-74.
Mallick S, Li H, Lipson M, et al.
The Simons Genome Diversity Project: 300 genomes from 142 diverse populations.
Nature. 2016 Oct 13;538(7624):201-206.
Mondal M, Casals F, Xu T, et al.
Genomic analysis of Andamanese provides insights into ancient human migration into Asia and adaptation.
Nat Genet. 2016 Sep;48(9):1066-70.
Wong LP, Lai JK, Saw WY, et al.
Insights into the genetic structure and diversity of 38 South Asian Indians from deep whole-genome sequencing.
PLoS Genet. 2014 May 15;10(5):e1004377.
Chambers JC, Abbott J, et al.
The South Asian genome.
PLoS One. 2014 Aug 12;9(8)
Wellness genome project consortium
Understanding signals of wellness and healthy living from genome sequences. (dataset)
Cite this Resource:
Judith Mary Hariprakash, Shamsudheen Karuthedath Vellarikkal, Ankit Verma, Anop Singh Ranawat, Rijith Jayarajan, Rowmika Ravi, Anoop Kumar, Vishal Dixit, Ambily Sivadas, Atul Kumar Kashyap, Vigneshwar Senthival, Paras Sehgal, Vijayalaskhmi Mahadevan, Vinod Scaria, Sridhar Sivasubbu
SAGE- a comprehensive resource of genetic variants integrating South Asian genomes and exomes
Database, Volume 2018, 1 January 2018, Pages 1-10,https://doi.org/10.1093/database/bay080
