Open AccessA benchmark study of scoring methods for non-coding mutations
Author(s) -
Damien Drubay,
Daniel Gautheret,
Stefan Michiels
Publication year - 2018
Publication title -
bioinformatics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.599
H-Index - 390
eISSN - 1367-4811
pISSN - 1367-4803
DOI - 10.1093/bioinformatics/bty008
Subject(s) - computer science , benchmark (surveying) , coding (social sciences) , genome , reference genome , computational biology , gene prediction , pseudogene , biology , gene , genetics , statistics , mathematics , geodesy , geography
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.
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