[PDF][PDF] Meta-analysis fine-mapping is often miscalibrated at single-variant resolution

M Kanai, R Elzur, W Zhou, KHH Wu, H Rasheed… - Cell Genomics, 2022 - cell.com
Meta-analysis is pervasively used to combine multiple genome-wide association studies
(GWASs). Fine-mapping of meta-analysis studies is typically performed as in a single-cohort …

A harmonized public resource of deeply sequenced diverse human genomes

Z Koenig, MT Yohannes, LL Nkambule… - Genome …, 2024 - genome.cshlp.org
Underrepresented populations are often excluded from genomic studies due in part to a lack
of resources supporting their analyses. The 1000 Genomes Project (1kGP) and Human …

[PDF][PDF] The Michigan Genomics Initiative: a biobank linking genotypes and electronic clinical records in Michigan Medicine patients

M Zawistowski, LG Fritsche, A Pandit, B Vanderwerff… - Cell Genomics, 2023 - cell.com
Biobanks of linked clinical patient histories and biological samples are an efficient strategy
to generate large cohorts for modern genetics research. Biobank recruitment varies by …

Pharmacogenomics beyond single common genetic variants: the way forward

VM Lauschke, Y Zhou… - Annual Review of …, 2024 - annualreviews.org
Interindividual variability in genes encoding drug-metabolizing enzymes, transporters,
receptors, and human leukocyte antigens has a major impact on a patient's response to …

Multi-ancestry study of the genetics of problematic alcohol use in over 1 million individuals

H Zhou, RL Kember, JD Deak, H Xu, S Toikumo… - Nature Medicine, 2023 - nature.com
Problematic alcohol use (PAU), a trait that combines alcohol use disorder and alcohol-
related problems assessed with a questionnaire, is a leading cause of death and morbidity …

[PDF][PDF] Global Biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts

Y Wang, S Namba, E Lopera, S Kerminen, K Tsuo… - Cell Genomics, 2023 - cell.com
Polygenic risk scores (PRSs) have been widely explored in precision medicine. However,
few studies have thoroughly investigated their best practices in global populations across …

[PDF][PDF] Cancer PRSweb: an online repository with polygenic risk scores for major cancer traits and their evaluation in two independent biobanks

LG Fritsche, S Patil, LJ Beesley, P VandeHaar… - The American Journal of …, 2020 - cell.com
To facilitate scientific collaboration on polygenic risk scores (PRSs) research, we created an
extensive PRS online repository for 35 common cancer traits integrating freely available …

Extremely sparse models of linkage disequilibrium in ancestrally diverse association studies

P Salehi Nowbandegani, AW Wohns, JL Ballard… - Nature Genetics, 2023 - nature.com
Linkage disequilibrium (LD) is the correlation among nearby genetic variants. In genetic
association studies, LD is often modeled using large correlation matrices, but this approach …

Quantifying portable genetic effects and improving cross-ancestry genetic prediction with GWAS summary statistics

J Miao, H Guo, G Song, Z Zhao, L Hou, Q Lu - Nature Communications, 2023 - nature.com
Polygenic risk scores (PRS) calculated from genome-wide association studies (GWAS) of
Europeans are known to have substantially reduced predictive accuracy in non-European …

[PDF][PDF] Genotyping and population characteristics of the China Kadoorie Biobank

RG Walters, IY Millwood, K Lin, DS Valle, P McDonnell… - Cell Genomics, 2023 - cell.com
Summary The China Kadoorie Biobank (CKB) is a population-based prospective cohort of>
512,000 adults recruited from 2004 to 2008 from 10 geographically diverse regions across …