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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Bibliographic Details
Published in:PLoS One
Main Authors: Clark, Wyatt T., Yu, G. Karen, Aoyagi-Scharber, Mika, LeBowitz, Jonathan H.
Format: Artigo
Language:Inglês
Published: Public Library of Science 2018
Subjects:
Research Article
Online Access: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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