Using high-resolution variant frequencies to empower clinical genome interpretation
Using high-resolution variant frequencies to empower clinical genome interpretation
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Publisher
New York: Nature Publishing Group US
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Language
English
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Publisher
New York: Nature Publishing Group US
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Purpose
Whole-exome and whole-genome sequencing have transformed the discovery of genetic variants that cause human Mendelian disease, but discriminating pathogenic from benign variants remains a daunting challenge. Rarity is recognized as a necessary, although not sufficient, criterion for pathogenicity, but frequency cutoffs used in Mendelian...
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Using high-resolution variant frequencies to empower clinical genome interpretation
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5563454
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5563454
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/gim.2017.26
