A geographically matched control population efficiently limits the number of candidate disease-causi...
A geographically matched control population efficiently limits the number of candidate disease-causing variants in an unbiased whole-genome analysis
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United States: Public Library of Science
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Language
English
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United States: Public Library of Science
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Contents
Whole-genome sequencing is a promising approach for human autosomal dominant disease studies. However, the vast number of genetic variants observed by this method constitutes a challenge when trying to identify the causal variants. This is often handled by restricting disease studies to the most damaging variants, e.g. those found in coding regions...
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Full title
A geographically matched control population efficiently limits the number of candidate disease-causing variants in an unbiased whole-genome analysis
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TN_cdi_plos_journals_2199318309
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2199318309
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0213350
