MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants
MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants
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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
The diffusion of next-generation sequencing technologies has revolutionized research and diagnosis in the field of rare Mendelian disorders, notably via whole-exome sequencing (WES). However, one of the main issues hampering achievement of a diagnosis via WES analyses is the extended list of variants of unknown significance (VUS), mostly composed o...
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Full title
MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants
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TN_cdi_plos_journals_2429431290
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2429431290
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0236962
