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Utilizing ExAC to assess the hidden contribution of variants of unknown significance to Sanfilippo Type B incidence

Given the large and expanding quantity of publicly available sequencing data, it should be possible to extract incidence information for monogenic diseases from allele frequencies, provided one knows which mutations are causal. We tested this idea on a rare, monogenic, lysosomal storage disorder, Sa...

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發表在:PLoS One
Main Authors: Clark, Wyatt T., Yu, G. Karen, Aoyagi-Scharber, Mika, LeBowitz, Jonathan H.
格式: Artigo
語言:Inglês
出版: Public Library of Science 2018
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC6034809/
https://ncbi.nlm.nih.gov/pubmed/29979746
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0200008
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