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New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web-Based Tool for Linking Investigators with an Interest in the Same Gene

Identifying the causative variant from among the thousands identified by whole-exome sequencing or whole-genome sequencing is a formidable challenge. To make this process as efficient and flexible as possible, we have developed a Variant Analysis Module coupled to our previously described Web-based...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Sobreira, Nara, Schiettecatte, François, Boehm, Corinne, Valle, David, Hamosh, Ada
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4820250/
https://ncbi.nlm.nih.gov/pubmed/25684268
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22769
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