Benefits and limitations of genome-wide association studies

V Tam, N Patel, M Turcotte, Y Bossé, G Paré… - Nature Reviews …, 2019 - nature.com
Genome-wide association studies (GWAS) involve testing genetic variants across the
genomes of many individuals to identify genotype–phenotype associations. GWAS have …

Pan-genomics in the human genome era

RM Sherman, SL Salzberg - Nature Reviews Genetics, 2020 - nature.com
Since the early days of the genome era, the scientific community has relied on a single
'reference'genome for each species, which is used as the basis for a wide range of genetic …

Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

A Mahajan, CN Spracklen, W Zhang, MCY Ng… - Nature …, 2022 - nature.com
We assembled an ancestrally diverse collection of genome-wide association studies
(GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls …

The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions

N Rahmioglu, S Mortlock, M Ghiasi, PL Møller… - Nature …, 2023 - nature.com
Endometriosis is a common condition associated with debilitating pelvic pain and infertility.
A genome-wide association study meta-analysis, including 60,674 cases and 701,926 …

Multiomics study of nonalcoholic fatty liver disease

G Sveinbjornsson, MO Ulfarsson, RB Thorolfsdottir… - Nature …, 2022 - nature.com
Nonalcoholic fatty liver (NAFL) and its sequelae are growing health problems. We performed
a genome-wide association study of NAFL, cirrhosis and hepatocellular carcinoma, and …

The sequences of 150,119 genomes in the UK Biobank

BV Halldorsson, HP Eggertsson, KHS Moore… - Nature, 2022 - nature.com
Detailed knowledge of how diversity in the sequence of the human genome affects
phenotypic diversity depends on a comprehensive and reliable characterization of both …

Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis

SN Stacey, F Zink, GH Halldorsson, L Stefansdottir… - Nature Genetics, 2023 - nature.com
Clonal hematopoiesis (CH) arises when a substantial proportion of mature blood cells is
derived from a single hematopoietic stem cell lineage. Using whole-genome sequencing of …

Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

A Mahajan, D Taliun, M Thurner, NR Robertson… - Nature …, 2018 - nature.com
We expanded GWAS discovery for type 2 diabetes (T2D) by combining data from 898,130
European-descent individuals (9% cases), after imputation to high-density reference panels …

[HTML][HTML] Actionable genotypes and their association with life span in Iceland

BO Jensson, GA Arnadottir… - … England Journal of …, 2023 - Mass Medical Soc
Abstract Background In 2021, the American College of Medical Genetics and Genomics
(ACMG) recommended reporting actionable genotypes in 73 genes associated with …

Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura

G Bjornsdottir, MA Chalmer, L Stefansdottir… - Nature Genetics, 2023 - nature.com
Migraine is a complex neurovascular disease with a range of severity and symptoms, yet
mostly studied as one phenotype in genome-wide association studies (GWAS). Here we …