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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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:PLoS One
मुख्य लेखकों: Clark, Wyatt T., Yu, G. Karen, Aoyagi-Scharber, Mika, LeBowitz, Jonathan H.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Public Library of Science 2018
विषय:
ऑनलाइन पहुंच: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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