Log in to save to my catalogue

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 guide...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_aee7dba87dbc49fabf53d6a087540995

Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence

About this item

Full title

Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence

Publisher

England: BioMed Central Ltd

Journal title

BMC genomics, 2017-08, Vol.18 (Suppl 5), p.569-569, Article 569

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

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...

Alternative Titles

Full title

Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence

Authors, Artists and Contributors

Identifiers

Primary Identifiers

Record Identifier

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

Other Identifiers

ISSN

1471-2164

E-ISSN

1471-2164

DOI

10.1186/s12864-017-3914-0

How to access this item