Genome-wide association studies
Genome-wide association studies (GWAS) test hundreds of thousands of genetic variants
across many genomes to find those statistically associated with a specific trait or disease …
across many genomes to find those statistically associated with a specific trait or disease …
Sociotechnical safeguards for genomic data privacy
Recent developments in a variety of sectors, including health care, research and the direct-
to-consumer industry, have led to a dramatic increase in the amount of genomic data that …
to-consumer industry, have led to a dramatic increase in the amount of genomic data that …
Multiomics study of nonalcoholic fatty liver disease
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 …
a genome-wide association study of NAFL, cirrhosis and hepatocellular carcinoma, and …
Large-scale plasma proteomics comparisons through genetics and disease associations
High-throughput proteomics platforms measuring thousands of proteins in plasma combined
with genomic and phenotypic information have the power to bridge the gap between the …
with genomic and phenotypic information have the power to bridge the gap between the …
The sequences of 150,119 genomes in the UK Biobank
Detailed knowledge of how diversity in the sequence of the human genome affects
phenotypic diversity depends on a comprehensive and reliable characterization of both …
phenotypic diversity depends on a comprehensive and reliable characterization of both …
Fast two-stage phasing of large-scale sequence data
Haplotype phasing is the estimation of haplotypes from genotype data. We present a fast,
accurate, and memory-efficient haplotype phasing method that scales to large-scale SNP …
accurate, and memory-efficient haplotype phasing method that scales to large-scale SNP …
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 …
derived from a single hematopoietic stem cell lineage. Using whole-genome sequencing of …
Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura
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 …
mostly studied as one phenotype in genome-wide association studies (GWAS). Here we …
Biobank-driven genomic discovery yields new insight into atrial fibrillation biology
To identify genetic variation underlying atrial fibrillation, the most common cardiac
arrhythmia, we performed a genome-wide association study of> 1,000,000 people, including …
arrhythmia, we performed a genome-wide association study of> 1,000,000 people, including …
Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure
Heart failure (HF) is a leading cause of morbidity and mortality worldwide. A small proportion
of HF cases are attributable to monogenic cardiomyopathies and existing genome-wide …
of HF cases are attributable to monogenic cardiomyopathies and existing genome-wide …