[PDF][PDF] eXclusionarY: 10 years later, where are the sex chromosomes in GWASs?

L Sun, Z Wang, T Lu, TA Manolio… - The American Journal of …, 2023 - cell.com
Summary 10 years ago, a detailed analysis showed that only 33% of genome-wide
association study (GWAS) results included the X chromosome. Multiple recommendations …

[HTML][HTML] Machine learning approaches to genome-wide association studies

DO Enoma, J Bishung, T Abiodun, O Ogunlana… - Journal of King Saud …, 2022 - Elsevier
Abstract Genome-wide Association Studies (GWAS) are conducted to identify single
nucleotide polymorphisms (variants) associated with a phenotype within a specific …

[HTML][HTML] A comparative analysis of current phasing and imputation software

A De Marino, AA Mahmoud, M Bose, KO Bircan… - Plos one, 2022 - journals.plos.org
Whole-genome data has become significantly more accessible over the last two decades.
This can largely be attributed to both reduced sequencing costs and imputation models …

[HTML][HTML] Why does the X chromosome lag behind autosomes in GWAS findings?

IP Gorlov, CI Amos - PLoS Genetics, 2023 - journals.plos.org
The X-chromosome is among the largest human chromosomes. It differs from autosomes by
a number of important features including hemizygosity in males, an almost complete …

[HTML][HTML] A multi-phenotype genome-wide association study of clades causing tuberculosis in a Ghanaian-and South African cohort

SJ Müller, H Schurz, G Tromp, GD van Der Spuy… - Genomics, 2021 - Elsevier
Despite decades of research and advancements in diagnostics and treatment, tuberculosis
remains a major public health concern. New computational methods are needed to …

[HTML][HTML] Prospective avenues for human population genomics and disease mapping in southern Africa

Y Swart, G van Eeden, A Sparks, C Uren… - Molecular Genetics and …, 2020 - Springer
Population substructure within human populations is globally evident and a well-known
confounding factor in many genetic studies. In contrast, admixture mapping exploits …

[HTML][HTML] Genotype imputation in case-only studies of gene-environment interaction: validity and power

M Aleknonytė-Resch, S Szymczak, S Freitag-Wolf… - Human Genetics, 2021 - Springer
Case-only (CO) studies are a powerful means to uncover gene-environment (G× E)
interactions for complex human diseases. Moreover, such studies may in principle also draw …