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© Research
Publication : BMC genomics

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

Team: Human Evolutionary Genetics
Member: Lluis Quintana-Murci
Scientific Fields
Diseases
Organisms
Applications
Technique

Published in BMC genomics - 03 Apr 2014

Itan Y, Mazel M, Mazel B, Abhyankar A, Nitschke P, Quintana-Murci L, Boisson-Dupuis S, Boisson B, Abel L, Zhang SY, Casanova JL

Link to Pubmed [PMID] – 24694260

BMC Genomics 2014;15:256

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 close to each other. According to this hypothesis, candidate genes are picked from high-throughput data on the basis of their biological proximity to core genes – genes already known to be responsible for the phenotype. There is currently no effective gene-centric online interface for this purpose.