Abstract
Genome-wide association studies (GWAS) have been extensively used to estimate the signed effects of trait-associated alleles. One of the key challenges in GWAS are confounding factors, such as population stratification, which can lead to spurious genotype-trait associations. Recent independent studies [1, 8, 10] failed to replicate the strong evidence of previously reported signals of directional selection on height in Europeans in the UK Biobank cohort, and attributed the loss of signal to cryptic relatedness in populations.
Supported by NSF IIS 1715202 and NFS DMS 1760353 awarded to PD and PP.
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Bose, A., Burch, M.C., Chowdhury, A., Paschou, P., Drineas, P. (2020). CluStrat: A Structure Informed Clustering Strategy for Population Stratification. In: Schwartz, R. (eds) Research in Computational Molecular Biology. RECOMB 2020. Lecture Notes in Computer Science(), vol 12074. Springer, Cham. https://doi.org/10.1007/978-3-030-45257-5_19
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DOI: https://doi.org/10.1007/978-3-030-45257-5_19
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