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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Detalles Bibliográficos
Autores principales: Wang, Jun, Zhao, Li, Wang, Xia, Chen, Yong, Xu, Mingchu, Soens, Zachry T., Ge, Zhongqi, Wang, Peter Ronghan, Wang, Fei, Chen, Rui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6258408/
https://www.ncbi.nlm.nih.gov/pubmed/30477545
http://dx.doi.org/10.1186/s13059-018-1579-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6258408/
https://www.ncbi.nlm.nih.gov/pubmed/30477545
http://dx.doi.org/10.1186/s13059-018-1579-x

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