HGCS: an online tool for prioritizing disease-causing gene variants by biological distance

BACKGROUND: Identifying the genotypes underlying human disease phenotypes is a fundamental step in human genetics and medicine. High-throughput genomic technologies provide thousands of genetic variants per individual. The causal genes of a specific phenotype are usually expected to be functionally...

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Autors principals: Itan, Yuval, Mazel, Mark, Mazel, Benjamin, Abhyankar, Avinash, Nitschke, Patrick, Quintana-Murci, Lluis, Boisson-Dupuis, Stephanie, Boisson, Bertrand, Abel, Laurent, Zhang, Shen-Ying, Casanova, Jean-Laurent
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2014
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4051124/
https://ncbi.nlm.nih.gov/pubmed/24694260
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2164-15-256
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