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

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

Abstract 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...

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Bibliographic Details
Main Authors: Elizabeth Wohler, Renan Martin, Sean Griffith, Eliete da S. Rodrigues, Corina Antonescu, Jennifer E. Posey, Zeynep Coban-Akdemir, Shalini N. Jhangiani, Kimberly F. Doheny, James R. Lupski, David Valle, Ada Hamosh, Nara Sobreira
Format: Article
Language:English
Published: BMC 2021-08-01
Series:Orphanet Journal of Rare Diseases
Subjects:
PhenoDB
GeneMatcher
VariantMatcher
Data sharing
Genomic data
Online Access:https://doi.org/10.1186/s13023-021-01916-z

Internet

https://doi.org/10.1186/s13023-021-01916-z

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