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Article

A benchmark study of scoring methods for non-coding mutations.

Bioinformatics (Oxford, England) - 15 May 2018

Drubay Damien, Gautheret Daniel, Michiels Stefan

Abstract excerpt

Motivation: Detailed knowledge of coding sequences has led to different candidate models for pathogenic variant prioritization. Several deleteriousness scores have been proposed for the non-coding part of the genome, but no large-scale comparison has been realized to date to assess their performance. Results: We compared the leading scoring tools (CADD, FATHMM-MKL, Funseq2 and GWAVA) and some recent competitors...

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PMID: 29340599
DOI: 10.1093/bioinformatics/bty008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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