Caricamento...

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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Hum Mutat
Autori principali: Sobreira, Nara, Schiettecatte, François, Boehm, Corinne, Valle, David, Hamosh, Ada
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2015
Soggetti:
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !