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Phenotype-specific differences in polygenicity and effect size distribution across functional annotation categories revealed by AI-MiXeR

MOTIVATION: Determining the relative contributions of functional genetic categories is fundamental to understanding the genetic etiology of complex human traits and diseases. Here, we present Annotation Informed-MiXeR, a likelihood-based method for estimating the number of variants influencing a phe...

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Bibliografski detalji
Izdano u:Bioinformatics
Glavni autori: Shadrin, Alexey A, Frei, Oleksandr, Smeland, Olav B, Bettella, Francesco, O'Connell, Kevin S, Gani, Osman, Bahrami, Shahram, Uggen, Tea K E, Djurovic, Srdjan, Holland, Dominic, Andreassen, Ole A, Dale, Anders M
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2020
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7750998/
https://ncbi.nlm.nih.gov/pubmed/32539089
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btaa568
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