[PDF][PDF] 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 …

Gene expression in African Americans, Puerto Ricans and Mexican Americans reveals ancestry-specific patterns of genetic architecture

L Kachuri, ACY Mak, D Hu, C Eng, S Huntsman… - Nature …, 2023 - nature.com
We explored ancestry-related differences in the genetic architecture of whole-blood gene
expression using whole-genome and RNA sequencing data from 2,733 African Americans …

Next generation disparities in human genomics: concerns and remedies

AC Need, DB Goldstein - Trends in Genetics, 2009 - cell.com
Studies of human genetics, particularly genome-wide association studies (GWAS), have
concentrated heavily on European populations, with individuals of African ancestry rarely …

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

N Soranzo, TD Spector, M Mangino, B Kühnel… - Nature …, 2009 - nature.com
The number and volume of cells in the blood affect a wide range of disorders including
cancer and cardiovascular, metabolic, infectious and immune conditions. We consider here …

Analysis of polygenic risk score usage and performance in diverse human populations

L Duncan, H Shen, B Gelaye, J Meijsen… - Nature …, 2019 - nature.com
A historical tendency to use European ancestry samples hinders medical genetics research,
including the use of polygenic scores, which are individual-level metrics of genetic risk. We …

A genome-wide association study of red blood cell traits using the electronic medical record

IJ Kullo, K Ding, H Jouni, CY Smith, CG Chute - PloS one, 2010 - journals.plos.org
Background The Electronic Medical Record (EMR) is a potential source for high throughput
phenotyping to conduct genome-wide association studies (GWAS), including those of …

[PDF][PDF] Harmonizing genetic ancestry and self-identified race/ethnicity in genome-wide association studies

H Fang, Q Hui, J Lynch, J Honerlaw, TL Assimes… - The American Journal of …, 2019 - cell.com
Large-scale multi-ethnic cohorts offer unprecedented opportunities to elucidate the genetic
factors influencing complex traits related to health and disease among minority populations …

GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children

J Li, JT Glessner, H Zhang, C Hou, Z Wei… - Human molecular …, 2013 - academic.oup.com
Hematological traits are important clinical indicators, the genetic determinants of which have
not been fully investigated. Common measures of hematological traits include red blood cell …

[PDF][PDF] Imputation of exome sequence variants into population-based samples and blood-cell-trait-associated loci in African Americans: NHLBI GO Exome Sequencing …

PL Auer, JM Johnsen, AD Johnson, BA Logsdon… - The American Journal of …, 2012 - cell.com
Researchers have successfully applied exome sequencing to discover causal variants in
selected individuals with familial, highly penetrant disorders. We demonstrate the utility of …

Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT)

AP Reiner, G Lettre, MA Nalls, SK Ganesh… - PLoS …, 2011 - journals.plos.org
Total white blood cell (WBC) and neutrophil counts are lower among individuals of African
descent due to the common African-derived “null” variant of the Duffy Antigen Receptor for …