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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Bibliografiset tiedot
Julkaisussa:Am J Hum Genet
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Elsevier 2019
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Article
Linkit: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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