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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Original Papers
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7750998/
https://www.ncbi.nlm.nih.gov/pubmed/32539089
http://dx.doi.org/10.1093/bioinformatics/btaa568

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7750998/
https://www.ncbi.nlm.nih.gov/pubmed/32539089
http://dx.doi.org/10.1093/bioinformatics/btaa568

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