Pinpointing disease genes through phenomic and genomic data fusion

Rui Jiang, Mengmeng Wu, Lianshuo Li

Published: 2015, Last Modified: 05 May 2026BMC Genom. 2015EveryoneRevisionsBibTeXCC BY-SA 4.0
Abstract: Pinpointing genes involved in inherited human diseases remains a great challenge in the post-genomics era. Although approaches have been proposed either based on the guilt-by-association principle or making use of disease phenotype similarities, the low coverage of both diseases and genes in existing methods has been preventing the scan of causative genes for a significant proportion of diseases at the whole-genome level.
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