Development of pathogenicity predictors specific for variants that do not comply with clinical guide...
Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence
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Publisher
England: BioMed Central Ltd
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Language
English
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England: BioMed Central Ltd
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Scope and Contents
Contents
Strict guidelines delimit the use of computational information in the clinical setting, due to the still moderate accuracy of in silico tools. These guidelines indicate that several tools should always be used and that full coincidence between them is required if we want to consider their results as supporting evidence in medical decision processes...
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Full title
Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence
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TN_cdi_doaj_primary_oai_doaj_org_article_aee7dba87dbc49fabf53d6a087540995
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_aee7dba87dbc49fabf53d6a087540995
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ISSN
1471-2164
E-ISSN
1471-2164
DOI
10.1186/s12864-017-3914-0