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Article

DrivR-Base: a feature extraction toolkit for variant effect prediction model construction.

Bioinformatics (Oxford, England) - 29 Mar 2024

Francis Amy, Campbell Colin, Gaunt Tom R

Abstract excerpt

MOTIVATION: Recent advancements in sequencing technologies have led to the discovery of numerous variants in the human genome. However, understanding their precise roles in diseases remains challenging due to their complex functional mechanisms. Various methodologies have emerged to predict the pathogenic significance of these genetic variants. Typically, these methods employ an integrative approach, leveraging...

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Identifiers

PMID: 38603611
DOI: 10.1093/bioinformatics/btae197
PMCID: PMC11057939

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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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