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Article

FIRE: functional inference of genetic variants that regulate gene expression.

Bioinformatics (Oxford, England) - 15 Dec 2017

Ioannidis Nilah M, Davis Joe R, DeGorter Marianne K, Larson Nicholas B, McDonnell Shannon K, French Amy J, Battle Alexis J, Hastie Trevor J, Thibodeau Stephen N, Montgomery Stephen B, Bustamante Carlos D, Sieh Weiva, Whittemore Alice S

Abstract excerpt

MOTIVATION: Interpreting genetic variation in noncoding regions of the genome is an important challenge for personal genome analysis. One mechanism by which noncoding single nucleotide variants (SNVs) influence downstream phenotypes is through the regulation of gene expression. Methods to predict whether or not individual SNVs are likely to regulate gene expression would aid interpretation of variants of unknown...

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PMID: 28961785
DOI: 10.1093/bioinformatics/btx534
PMCID: PMC5860093

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

Source receipt: pubmed, retrieved 6 Sept 2026.

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