ArticleDatabase : the journal of biological databases and curation2018
SAGE: a comprehensive resource of genetic variants integrating South Asian whole genomes and exomes.
Article in Database : the journal of biological databases and curation, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Meta-analysis of genomic variants and gene expression data in schizophrenia suggests the potential need for adjunctive therapeutic interventions for neuropsychiatric disorders.Journal of genetics · 2019Pooled it
- Geographic boundary for the Asian-type DEL in south Asia.iScience · 2026Article
- Assembling unmapped reads reveals hidden variation in South Asian genomes.Nature communications · 2026Article
- Genetic variants in the CD59 gene: An exploratory study of large genome databases.Transfusion · 2025Article
- Reflections on my international genetic counseling rotations: Contrasts in practice between India and the United States.Genetics in medicine open · 2024Article
- Exploring the genetic landscape of diphtheria, tetanus and pertussis vaccination-associated seizures or subsequent epilepsies.The Lancet regional health. Southeast Asia · 2023Article
- Genomic data integration and user-defined sample-set extraction for population variant analysis.BMC bioinformatics · 2022Article
- Genetics of Chronic Kidney Disease in Low-Resource Settings.Seminars in nephrology · 2022Review
- Whole exome sequencing of pediatric leukemia reveals a novel InDel within FLT-3 gene in AML patient from Mizo tribal population, Northeast India.BMC genomic data · 2022Article
- A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.Human mutation · 2021Article
- Article
- Pharmacogenomics in Asian Subpopulations and Impacts on Commonly Prescribed Medications.Clinical and translational science · 2020Review
- A Review on the Challenges in Indian Genomics Research for Variant Identification and Interpretation.Frontiers in genetics · 2020Review
- Genomics of rare genetic diseases-experiences from India.Human genomics · 2019Review
- Building cross-border collaborations to increase diversity and accelerate rare disease drug development - meeting report from the inaugural IndoUSrare Annual Conference 2021.Therapeutic advances in rare diseaseReview
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15 authors.
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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.
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