ORE identifies extreme expression effects enriched for rare variants

MOTIVATION: Non-coding rare variants (RVs) may contribute to Mendelian disorders but have been challenging to study due to small sample sizes, genetic heterogeneity and uncertainty about relevant non-coding features. Previous studies identified RVs associated with expression outliers, but varying ou...

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Detalhes bibliográficos
Publicado no:Bioinformatics
Main Authors: Richter, F, Hoffman, G E, Manheimer, K B, Patel, N, Sharp, A J, McKean, D, Morton, S U, DePalma, S, Gorham, J, Kitaygorodksy, A, Porter, G A, Giardini, A, Shen, Y, Chung, W K, Seidman, J G, Seidman, C E, Schadt, E E, Gelb, B D
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2019
Assuntos:
Original Papers
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6792115/
https://ncbi.nlm.nih.gov/pubmed/30903145
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btz202
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