[HTML][HTML] Genome-wide association studies in ancestrally diverse populations: opportunities, methods, pitfalls, and recommendations

RE Peterson, K Kuchenbaecker, RK Walters, CY Chen… - Cell, 2019 - cell.com
Genome-wide association studies (GWASs) have focused primarily on populations of
European descent, but it is essential that diverse populations become better represented …

[HTML][HTML] A one-penny imputed genome from next-generation reference panels

BL Browning, Y Zhou, SR Browning - The American Journal of Human …, 2018 - cell.com
Genotype imputation is commonly performed in genome-wide association studies because it
greatly increases the number of markers that can be tested for association with a trait. In …

Heritability estimates for 361 blood metabolites across 40 genome-wide association studies

FA Hagenbeek, R Pool, J van Dongen… - Nature …, 2020 - nature.com
Metabolomics examines the small molecules involved in cellular metabolism. Approximately
50% of total phenotypic differences in metabolite levels is due to genetic variance, but …

Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

P Gormley, V Anttila, BS Winsvold, P Palta, T Esko… - Nature …, 2016 - nature.com
Migraine is a debilitating neurological disorder affecting around one in seven people
worldwide, but its molecular mechanisms remain poorly understood. There is some debate …

Use of> 100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare …

MH Kowalski, H Qian, Z Hou, JD Rosen, AL Tapia… - PLoS …, 2019 - journals.plos.org
Most genome-wide association and fine-mapping studies to date have been conducted in
individuals of European descent, and genetic studies of populations of Hispanic/Latino and …

Common genetic variation influencing human white matter microstructure

B Zhao, T Li, Y Yang, X Wang, T Luo, Y Shan, Z Zhu… - Science, 2021 - science.org
INTRODUCTION White matter in the human brain serves a critical role in organizing
distributed neural networks. Diffusion magnetic resonance imaging (dMRI) has enabled the …

Inherited GATA3 variants are associated with Ph-like childhood acute lymphoblastic leukemia and risk of relapse

V Perez-Andreu, KG Roberts, RC Harvey, W Yang… - Nature …, 2013 - nature.com
Recent genomic profiling of childhood acute lymphoblastic leukemia (ALL) identified a high-
risk subtype with an expression signature resembling that of Philadelphia chromosome …

Novel methods to optimize genotypic imputation for low‐coverage, next‐generation sequence data in crop plants

K Swarts, H Li, JA Romero Navarro, D An… - The Plant …, 2014 - Wiley Online Library
Next‐generation sequencing technology such as genotyping‐by‐sequencing (GBS) made
low‐cost, but often low‐coverage, whole‐genome sequencing widely available. Extensive …

Circulating vitamin D concentration and risk of seven cancers: Mendelian randomisation study

VI Dimitrakopoulou, KK Tsilidis, PC Haycock… - bmj, 2017 - bmj.com
Objective To determine if circulating concentrations of vitamin D are causally associated with
risk of cancer. Design Mendelian randomisation study. Setting Large genetic epidemiology …

Genome-wide identification of microRNAs regulating cholesterol and triglyceride homeostasis

A Wagschal, SH Najafi-Shoushtari, L Wang… - Nature medicine, 2015 - nature.com
Genome-wide association studies (GWASs) have linked genes to various pathological traits.
However, the potential contribution of regulatory noncoding RNAs, such as microRNAs …