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

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...

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Detalles Bibliográficos
Autores principales:	Bodea, Corneliu A., Mitchell, Adele A., Bloemendal, Alex, Day-Williams, Aaron G., Runz, Heiko, Sunyaev, Shamil R.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Software
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6203199/ https://www.ncbi.nlm.nih.gov/pubmed/30359302 http://dx.doi.org/10.1186/s13059-018-1546-6

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