A Genocentric Approach to Discovery of Mendelian Disorders

The advent of inexpensive, clinical exome sequencing (ES) has led to the accumulation of genetic data from thousands of samples from individuals affected with a wide range of diseases, but for whom the underlying genetic and molecular etiology of their clinical phenotype remains unknown. In many cas...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Hansen, Adam W., Murugan, Mullai, Li, He, Khayat, Michael M., Wang, Liwen, Rosenfeld, Jill, Andrews, B. Kim, Jhangiani, Shalini N., Coban Akdemir, Zeynep H., Sedlazeck, Fritz J., Ashley-Koch, Allison E., Liu, Pengfei, Muzny, Donna M., Davis, Erica E., Katsanis, Nicholas, Sabo, Aniko, Posey, Jennifer E., Yang, Yaping, Wangler, Michael F., Eng, Christine M., Sutton, V. Reid, Lupski, James R., Boerwinkle, Eric, Gibbs, Richard A.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6849092/
https://ncbi.nlm.nih.gov/pubmed/31668702
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.09.027
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