PINES: phenotype-informed tissue weighting improves prediction of pathogenic noncoding variants

PINES: phenotype-informed tissue weighting improves prediction of pathogenic noncoding variants

Abstract Functional characterization of the noncoding genome is essential for biological understanding of gene regulation and disease. Here, we introduce the computational framework PINES (Phenotype-Informed Noncoding Element Scoring), which predicts the functional impact of noncoding variants by in...

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Bibliographic Details
Main Authors: Corneliu A. Bodea, Adele A. Mitchell, Alex Bloemendal, Aaron G. Day-Williams, Heiko Runz, Shamil R. Sunyaev
Format: Article
Language:English
Published: BMC 2018-10-01
Series:Genome Biology
Subjects:
Noncoding variant
Computational functionality prediction
Epigenetic regulation
Cell type specificity
Functional scoring
Variant prioritization
Online Access:http://link.springer.com/article/10.1186/s13059-018-1546-6

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http://link.springer.com/article/10.1186/s13059-018-1546-6

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