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

Yuval Itan 1, * Mark Mazel 1 Benjamin Mazel 1 Avinash Abhyankar 2 Patrick Nitschke 3 Lluis Quintana-Murci 4 Stephanie Boisson-Dupuis 1, 3 Bertrand Boisson 1 Laurent Abel 1, 3 Shen-Ying Zhang 1, 3 Jean-Laurent Casanova 1, 3, 5, 6
* Auteur correspondant
1 St. Giles Laboratory of Human Genetics of Infectious Diseases
2 Bio-informatic
3 IMAGINE - U1163 - Imagine - Institut des maladies génétiques
4 Génétique Evolutive Humaine - Human Evolutionary Genetics
5 Unité d'Immunologie-Hématologie Pédiatrique
6 Immunology, Medicine and Translational Research
Abstract : 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 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. RESULTS: We describe here the human gene connectome server (HGCS), a powerful, easy-to-use interactive online tool enabling researchers to prioritize any list of genes according to their biological proximity to core genes associated with the phenotype of interest. We also make available an updated and extended version for all human gene-specific connectomes. The HGCS is freely available to noncommercial users from: http://hgc.rockefeller.edu/. CONCLUSIONS: The HGCS should help investigators from diverse fields to identify new disease-causing candidate genes more effectively, via a user-friendly online interface.
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BMC Genomics, BioMed Central, 2014, 15 (1), pp.256. 〈10.1186/1471-2164-15-256〉
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Yuval Itan, Mark Mazel, Benjamin Mazel, Avinash Abhyankar, Patrick Nitschke, et al.. HGCS: an online tool for prioritizing disease-causing gene variants by biological distance.. BMC Genomics, BioMed Central, 2014, 15 (1), pp.256. 〈10.1186/1471-2164-15-256〉. 〈inserm-00977606〉

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