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Article

parSMURF, a high-performance computing tool for the genome-wide detection of pathogenic variants.

GigaScience - 1 May 2020

Petrini Alessandro, Mesiti Marco, Schubach Max, Frasca Marco, Danis Daniel, Re Matteo, Grossi Giuliano, Cappelletti Luca, Castrignanò Tiziana, Robinson Peter N, Valentini Giorgio

Abstract excerpt

BACKGROUND: Several prediction problems in computational biology and genomic medicine are characterized by both big data as well as a high imbalance between examples to be learned, whereby positive examples can represent a tiny minority with respect to negative examples. For instance, deleterious or pathogenic variants are overwhelmed by the sea of neutral variants in the non-coding regions of the genome: thus,...

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PMID: 32444882
DOI: 10.1093/gigascience/giaa052
PMCID: PMC7244787

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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