A global overview of pleiotropy and genetic architecture in complex traits
K Watanabe, S Stringer, O Frei, M Umićević Mirkov… - Nature …, 2019 - nature.com
After a decade of genome-wide association studies (GWASs), fundamental questions in
human genetics, such as the extent of pleiotropy across the genome and variation in genetic …
human genetics, such as the extent of pleiotropy across the genome and variation in genetic …
[HTML][HTML] Statistical methods for Mendelian randomization in genome-wide association studies: a review
Genome-wide association studies have yielded thousands of associations for many
common diseases and disease-related complex traits. The identified associations made it …
common diseases and disease-related complex traits. The identified associations made it …
A genomic mutational constraint map using variation in 76,156 human genomes
The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders,,–, but …
been widely used to investigate protein-coding genes underlying human disorders,,–, but …
The complete sequence of a human Y chromosome
The human Y chromosome has been notoriously difficult to sequence and assemble
because of its complex repeat structure that includes long palindromes, tandem repeats and …
because of its complex repeat structure that includes long palindromes, tandem repeats and …
A cross-population atlas of genetic associations for 220 human phenotypes
Current genome-wide association studies do not yet capture sufficient diversity in
populations and scope of phenotypes. To expand an atlas of genetic associations in non …
populations and scope of phenotypes. To expand an atlas of genetic associations in non …
A genome-wide mutational constraint map quantified from variation in 76,156 human genomes
The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders, but …
been widely used to investigate protein-coding genes underlying human disorders, but …
Multivariate analysis of 1.5 million people identifies genetic associations with traits related to self-regulation and addiction
Behaviors and disorders related to self-regulation, such as substance use, antisocial
behavior and attention-deficit/hyperactivity disorder, are collectively referred to as …
behavior and attention-deficit/hyperactivity disorder, are collectively referred to as …
[HTML][HTML] Analyses of non-coding somatic drivers in 2,658 cancer whole genomes
The discovery of drivers of cancer has traditionally focused on protein-coding genes,,–. Here
we present analyses of driver point mutations and structural variants in non-coding regions …
we present analyses of driver point mutations and structural variants in non-coding regions …
[HTML][HTML] Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
Abstract The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate
the genetic architecture and biology of heart, lung, blood and sleep disorders, with the …
the genetic architecture and biology of heart, lung, blood and sleep disorders, with the …
[HTML][HTML] The UK Biobank resource with deep phenotyping and genomic data
C Bycroft, C Freeman, D Petkova, G Band, LT Elliott… - Nature, 2018 - nature.com
The UK Biobank project is a prospective cohort study with deep genetic and phenotypic data
collected on approximately 500,000 individuals from across the United Kingdom, aged …
collected on approximately 500,000 individuals from across the United Kingdom, aged …