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How good are pathogenicity predictors in detecting benign variants?

How good are pathogenicity predictors in detecting benign variants?

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2250638802

How good are pathogenicity predictors in detecting benign variants?

About this item

Full title

How good are pathogenicity predictors in detecting benign variants?

Publisher

United States: Public Library of Science

Journal title

PLoS computational biology, 2019-02, Vol.15 (2), p.e1006481-e1006481

Language

English

Formats

Publication information

Publisher

United States: Public Library of Science

More information

Scope and Contents

Contents

Computational tools are widely used for interpreting variants detected in sequencing projects. The choice of these tools is critical for reliable variant impact interpretation for precision medicine and should be based on systematic performance assessment. The performance of the methods varies widely in different performance assessments, for exampl...

Alternative Titles

Full title

How good are pathogenicity predictors in detecting benign variants?

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_plos_journals_2250638802

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2250638802

Other Identifiers

ISSN

1553-7358,1553-734X

E-ISSN

1553-7358

DOI

10.1371/journal.pcbi.1006481

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