PINES: phenotype-informed tissue weighting improves prediction of pathogenic noncoding variants
PINES: phenotype-informed tissue weighting improves prediction of pathogenic noncoding variants
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England: BioMed Central Ltd
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Language
English
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England: BioMed Central Ltd
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Contents
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 integrating epigenetic annotations in a phenotype-dependent m...
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Full title
PINES: phenotype-informed tissue weighting improves prediction of pathogenic noncoding variants
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TN_cdi_doaj_primary_oai_doaj_org_article_01dfcfcedd2d4a578c8bac8e1ec8674c
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_01dfcfcedd2d4a578c8bac8e1ec8674c
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ISSN
1474-760X,1474-7596
E-ISSN
1474-760X
DOI
10.1186/s13059-018-1546-6
