rvs.u.hpc.mssm.edu

RVS — the Reference Variant Store

The Reference Variant Store. Our query interface is available via the "Queries" menu. Entry points are searches by specific coordinate, dbSNP, or gene; or a comparison of cohorts based on populations in RVS. The first four queries are also wrapped in our REST API. Enter dbSNP IDs (rs-numbers) to search RVS for matching variants. Enter one or more genes and, optionally, genetic variants to search RVS. Enter a phenotype or disease name, and optionally a gene to search. Some pages require an HTML5-capable w...

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RVS — the Reference Variant Store | rvs.u.hpc.mssm.edu Reviews

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The Reference Variant Store. Our query interface is available via the Queries menu. Entry points are searches by specific coordinate, dbSNP, or gene; or a comparison of cohorts based on populations in RVS. The first four queries are also wrapped in our REST API. Enter dbSNP IDs (rs-numbers) to search RVS for matching variants. Enter one or more genes and, optionally, genetic variants to search RVS. Enter a phenotype or disease name, and optionally a gene to search. Some pages require an HTML5-capable w...

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RVS — the Reference Variant Store | rvs.u.hpc.mssm.edu Reviews

https://rvs.u.hpc.mssm.edu

The Reference Variant Store. Our query interface is available via the "Queries" menu. Entry points are searches by specific coordinate, dbSNP, or gene; or a comparison of cohorts based on populations in RVS. The first four queries are also wrapped in our REST API. Enter dbSNP IDs (rs-numbers) to search RVS for matching variants. Enter one or more genes and, optionally, genetic variants to search RVS. Enter a phenotype or disease name, and optionally a gene to search. Some pages require an HTML5-capable w...

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rvs.u.hpc.mssm.edu

1

RVS — the Reference Variant Store

https://rvs.u.hpc.mssm.edu/rest

To accommodate batch queries, RVS accepts REpresentational State Transfer (REST) requests to obtain data for different resource types, including population frequencies, impacts such as protein changes, and computational predictions. Supported arguments are gene, chromosomal location, dbSNP ID, and phenotype. REST requests to RVS are composed of the requested resource. Including frequencies, predicted functional impact, annotated phenotypes, and literature references; and an argument. Returns immediate ef...

2

Disease Variant Store

https://rvs.u.hpc.mssm.edu/divas

The Disease Variant Store provides information on genetic variants observed in various disease populations. Users can quickly obtain frequencies, functional annotations, and known disease annotations by performing simple queries. DIVAS is currently based on the following sequencing and genotyping studies:. For all functional impact annotations, using GRCh37.75 as the reference genome. We also provide predictions based on various tools, such as SIFT. DIVAS contains variants for 58434.

3

RVS — the Reference Variant Store

https://rvs.u.hpc.mssm.edu/datasources.php

Last update: September 21 2015, 15:01. Variant types and effects. Effects of observed variants. Shown are the numbers of variants that fall into a specific category of the SequenceOntology. As determined by snpEff. 2014-15 Icahn School of Medicine at Mount Sinai. Some pages require an HTML5-capable web browser.

4

RVS — the Reference Variant Store

https://rvs.u.hpc.mssm.edu/about.php

Information provided by RVS. RVS currently contains more than 520 million variants, obtained from these studies:. 1000 Genomes Phases 1 and 3 (1092 and 2535 samples, respectively; WGS). ESP6500 (6503 samples, WES). Scripps Wellderly (534, WGS). UK10K (7320: 4888 WES and 2432 WGS). GERA ( 78,000, genotyping). TCGA (4415, mixed WES and WGS). Mt Sinai BioBank (11,210, genotyping; visible to Mount Sinai users only). And these sample-independent resources and annotation databases:. Information provided by RVS.

5

RVS — the Reference Variant Store

https://rvs.u.hpc.mssm.edu/queries

Query by gene list. Query by cohorts (beta). Paste a list of max. 10 variants using coordinates and ref/alt alleles. Alternatively, enter a chromosomal region to retrieve all variants found in that region. Example for a single nucleotide variant:. Example for a chromosomal region:. Mdash; we accept regions of up to 10,000bp. Display only variants observed in 1000KG Ph3, ExAC, ESP6500, UK10K ALSPAC/TWINS, and/or Scripps Wellderly. Display results for the canonical isoform only (where applicable). You can ...

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rongchenlab.org

RVS | Rong Chen Lab

http://rongchenlab.org/software/rvs-2

RVS Rong Chen Lab. The Resilience Project Software. Super panel for comprehensive genetic testing. RVS the Reference Variant Store. Visit RVS: https:/ rvs.u.hpc.mssm.edu/. A Top 20 Medical School. Our reseach focuses on translational bioinformatics, integrating genomic, genetic, phenotypic, clinical, and environmental data to identify diagnostics biomarkers and therapeutical drugs, and drive personalized medicine. Dynamic. Creative. Committed. 2014 Rong Chen Laboratory.

rongchenlab.org

Software | Rong Chen Lab

http://rongchenlab.org/software

Software Rong Chen Lab. The Resilience Project Software. Super panel for comprehensive genetic testing. The Resilience Project aims at finding individuals with rare genetic mutations that the medical text books would indicate should have caused catastrophic illness but somehow these individuals are resilient they have been protected via yet to be discovered genetic or environmental factors. We are offering tools and screening panels. Data This tool helps clinical geneticist to. The Disease Variant Store ...

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rvs.u.hpc.mssm.edu

RVS — the Reference Variant Store

The Reference Variant Store. Our query interface is available via the "Queries" menu. Entry points are searches by specific coordinate, dbSNP, or gene; or a comparison of cohorts based on populations in RVS. The first four queries are also wrapped in our REST API. Enter dbSNP IDs (rs-numbers) to search RVS for matching variants. Enter one or more genes and, optionally, genetic variants to search RVS. Enter a phenotype or disease name, and optionally a gene to search. Some pages require an HTML5-capable w...

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Richmond View School .::. Welcome

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AG RVS - Welcome to the RVS Group

Networks and Distributed Systems. Research group of Prof. Peter Bernard Ladkin, Ph.D. Welcome to the RVS Group. The RVS Group (german: AG RVS - Arbeitsgruppe Rechnernetze und Verteilte Systeme) was established on January 1, 1995 and is headed by Prof. Peter Bernard Ladkin Ph.D. The RVS Group's specialities lie in:. Failure analysis and accident analysis of complex, heterogeneous, open systems. System safety analysis and forward engineering. More about the RVS Group » People and Info.

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