A scalable method for estimating the regional polygenicity of complex traits

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Abstract

A key question in human genetics is understanding the proportion of SNPs modulating a particular phenotype or the proportion of susceptibility SNPs for a disease, termed polygenicity. Previous studies have observed that complex traits tend to be highly polygenic, opposing the previous belief that only a handful of SNPs contribute to a trait [1–4]. Beyond these genome-wide estimates, the distribution of polygenicity across genomic regions as well as the genomic factors that affect regional polygenicity remain poorly understood.

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Johnson, R., Burch, K. S., Hou, K., Paciuc, M., Pasaniuc, B., & Sankararaman, S. (2020). A scalable method for estimating the regional polygenicity of complex traits. In Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics) (Vol. 12074 LNBI, pp. 253–254). Springer. https://doi.org/10.1007/978-3-030-45257-5_26

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