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Article

Computational prediction of human deep intronic variation.

GigaScience - 28 Dec 2022

Barbosa Pedro, Savisaar Rosina, Carmo-Fonseca Maria, Fonseca Alcides

Abstract excerpt

BACKGROUND: The adoption of whole-genome sequencing in genetic screens has facilitated the detection of genetic variation in the intronic regions of genes, far from annotated splice sites. However, selecting an appropriate computational tool to discriminate functionally relevant genetic variants from those with no effect is challenging, particularly for deep intronic regions where independent benchmarks are...

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PMID: 37878682
DOI: 10.1093/gigascience/giad085
PMCID: PMC10599398

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