ArticleBMC bioinformatics2016
Integrating 400 million variants from 80,000 human samples with extensive annotations: towards a knowledge base to analyze disease cohorts.
Article in BMC bioinformatics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Mutational patterns in a large cohort of parathyroid carcinomas.Journal of endocrinological investigation · 2026Article
- Evolution-guided yeast complementation reveals functional differences in human PSPH variants.FEBS open bio · 2026Article
- Genetic variations and recurrence in stage III Korean colorectal cancer: Insights from tumor-only mutation analysis.PloS one · 2025Article
- Transcript annotation tool (TransAT): an R package for retrieving annotations for transcript-specific genetic variants.BMC bioinformatics · 2021Article
- The evidence framework for precision cancer medicine.Nature reviews. Clinical oncology · 2018Review
- Identification of a novelCold Spring Harbor molecular case studies · 2017Article
- Article
- Recent advances in predicting gene-disease associations.F1000Research · 2017Review
- Text Mining Genotype-Phenotype Relationships from Biomedical Literature for Database Curation and Precision Medicine.PLoS computational biology · 2016Article
- Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.Nature biotechnology · 2016Article
- A novel mutation in CELSR1 is associated with hereditary lymphedema.Vascular cell · 2016Article
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
backgroundData from a plethora of high-throughput sequencing studies is readily available to researchers, providing genetic variants detected in a variety of healthy and disease populations. While each individual cohort helps gain insights into polymorphic and disease-associated variants, a joint perspective can be more powerful in identifying polymorphisms, rare variants, disease-associations, genetic burden, somatic variants, and disease mechanisms. DESCRIPTION: We have set up a Reference Variant Store (RVS) containing variants observed in a number of large-scale sequencing efforts, such as 1000 Genomes, ExAC, Scripps Wellderly, UK10K; various genotyping studies; and disease association databases. RVS holds extensive annotations pertaining to affected genes, functional impacts, disease associations, and population frequencies. RVS currently stores 400 million distinct variants observed in more than 80,000 human samples.
conclusionsRVS facilitates cross-study analysis to discover novel genetic risk factors, gene-disease associations, potential disease mechanisms, and actionable variants. Due to its large reference populations, RVS can also be employed for variant filtration and gene prioritization. AVAILABILITY: A web interface to public datasets and annotations in RVS is available at https://rvs.u.hpc.mssm.edu/.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.