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Article

PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data.

Orphanet journal of rare diseases - 18 Aug 2021

Wohler Elizabeth, Martin Renan, Griffith Sean, Rodrigues Eliete da S, Antonescu Corina, Posey Jennifer E, Coban-Akdemir Zeynep, Jhangiani Shalini N, Doheny Kimberly F, Lupski James R, Valle David, Hamosh Ada, Sobreira Nara

Abstract excerpt

BACKGROUND: With the advent of whole exome (ES) and genome sequencing (GS) as tools for disease gene discovery, rare variant filtering, prioritization and data sharing have become essential components of the search for disease genes and variants potentially contributing to disease phenotypes. The computational storage, data manipulation, and bioinformatic interpretation of thousands to millions of variants...

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PMID: 34407837
DOI: 10.1186/s13023-021-01916-z
PMCID: PMC8371856

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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