Classification of non-coding variants with high pathogenic impact
Classification of non-coding variants with high pathogenic impact
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Publisher
United States: Public Library of Science
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Language
English
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Publisher
United States: Public Library of Science
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Scope and Contents
Contents
Whole genome sequencing is increasingly used to diagnose medical conditions of genetic origin. While both coding and non-coding DNA variants contribute to a wide range of diseases, most patients who receive a WGS-based diagnosis today harbour a protein-coding mutation. Functional interpretation and prioritization of non-coding variants represents a...
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Full title
Classification of non-coding variants with high pathogenic impact
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TN_cdi_plos_journals_2665135987
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2665135987
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ISSN
1553-7404,1553-7390
E-ISSN
1553-7404
DOI
10.1371/journal.pgen.1010191
