Systematic reanalysis of genomic data improves quality of variant interpretation

As genomic sequencing expands, so does our knowledge of the link between genetic variation and disease. Deeper catalogs of variant frequencies improve identification of benign variants, while sequencing affected individuals reveals disease-associated variation. Accumulation of human genetic data thu...

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Detalhes bibliográficos
Publicado no:Clin Genet
Main Authors: Hiatt, Susan M., Amaral, Michelle D., Bowling, Kevin M., Finnila, Candice R., Thompson, Michelle L., Gray, David E., Lawlor, James M.J., Cochran, J. Nicholas, Bebin, E. Martina, Brothers, Kyle B., East, Kelly M., Kelley, Whitley V., Lamb, Neil E., Levy, Shawn E., Lose, Edward J., Neu, Matthew B., Rich, Carla A., Simmons, Shirley, Myers, Richard M., Barsh, Gregory S., Cooper, Gregory M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5995667/
https://ncbi.nlm.nih.gov/pubmed/29652076
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13259
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