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Article

eXtasy: variant prioritization by genomic data fusion.

Nature methods - 1 Nov 2013

Sifrim Alejandro, Popovic Dusan, Tranchevent Leon-Charles, Ardeshirdavani Amin, Sakai Ryo, Konings Peter, Vermeesch Joris R, Aerts Jan, De Moor Bart, Moreau Yves

Abstract excerpt

Massively parallel sequencing greatly facilitates the discovery of novel disease genes causing Mendelian and oligogenic disorders. However, many mutations are present in any individual genome, and identifying which ones are disease causing remains a largely open problem. We introduce eXtasy, an approach to prioritize nonsynonymous single-nucleotide variants (nSNVs) that substantially improves prediction of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 24076761
DOI: 10.1038/nmeth.2656

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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