GRIPT: a novel case-control analysis method for Mendelian disease gene discovery

Despite rapid progress of next-generation sequencing (NGS) technologies, the disease-causing genes underpinning about half of all Mendelian diseases remain elusive. One main challenge is the high genetic heterogeneity of Mendelian diseases in which similar phenotypes are caused by different genes an...

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Dettagli Bibliografici
Pubblicato in:Genome Biol
Autori principali: Wang, Jun, Zhao, Li, Wang, Xia, Chen, Yong, Xu, Mingchu, Soens, Zachry T., Ge, Zhongqi, Wang, Peter Ronghan, Wang, Fei, Chen, Rui
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2018
Soggetti:
Method
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6258408/
https://ncbi.nlm.nih.gov/pubmed/30477545
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13059-018-1579-x
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