FinnGen provides genetic insights from a well-phenotyped isolated population
Population isolates such as those in Finland benefit genetic research because deleterious
alleles are often concentrated on a small number of low-frequency variants (0.1%≤ minor …
alleles are often concentrated on a small number of low-frequency variants (0.1%≤ minor …
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 …
Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation
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 …
(GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls …
Genetic diversity fuels gene discovery for tobacco and alcohol use
Tobacco and alcohol use are heritable behaviours associated with 15% and 5.3% of
worldwide deaths, respectively, due largely to broad increased risk for disease and injury …
worldwide deaths, respectively, due largely to broad increased risk for disease and injury …
FinnGen: Unique genetic insights from combining isolated population and national health register data
Population isolates such as Finland provide benefits in genetic studies because the allelic
spectrum of damaging alleles in any gene is often concentrated on a small number of low …
spectrum of damaging alleles in any gene is often concentrated on a small number of low …
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 …
Causal effects on complex traits are similar for common variants across segments of different continental ancestries within admixed individuals
Individuals of admixed ancestries (for example, African Americans) inherit a mosaic of
ancestry segments (local ancestry) originating from multiple continental ancestral …
ancestry segments (local ancestry) originating from multiple continental ancestral …
Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries
Z Liu, R Liu, H Gao, S Jung, X Gao, R Sun, X Liu… - Nature …, 2023 - nature.com
Inflammatory bowel diseases (IBDs) are chronic disorders of the gastrointestinal tract with
the following two subtypes: Crohn's disease (CD) and ulcerative colitis (UC). To date, most …
the following two subtypes: Crohn's disease (CD) and ulcerative colitis (UC). To date, most …
Leveraging polygenic enrichments of gene features to predict genes underlying complex traits and diseases
Genome-wide association studies (GWASs) are a valuable tool for understanding the
biology of complex human traits and diseases, but associated variants rarely point directly to …
biology of complex human traits and diseases, but associated variants rarely point directly to …
Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program
One of the justifiable criticisms of human genetic studies is the underrepresentation of
participants from diverse populations. Lack of inclusion must be addressed at-scale to …
participants from diverse populations. Lack of inclusion must be addressed at-scale to …