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 …
Coming of age: ten years of next-generation sequencing technologies
Since the completion of the human genome project in 2003, extraordinary progress has
been made in genome sequencing technologies, which has led to a decreased cost per …
been made in genome sequencing technologies, which has led to a decreased cost per …
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 …
[HTML][HTML] A global reference for human genetic variation
1000 Genomes Project Consortium - Nature, 2015 - ncbi.nlm.nih.gov
Abstract The 1000 Genomes Project set out to provide a comprehensive description of
common human genetic variation by applying whole-genome sequencing to a diverse set of …
common human genetic variation by applying whole-genome sequencing to a diverse set of …
Next-generation genotype imputation service and methods
Genotype imputation is a key component of genetic association studies, where it increases
power, facilitates meta-analysis, and aids interpretation of signals. Genotype imputation is …
power, facilitates meta-analysis, and aids interpretation of signals. Genotype imputation is …
A reference panel of 64,976 haplotypes for genotype imputation
Nature genetics, 2016 - nature.com
We describe a reference panel of 64,976 human haplotypes at 39,235,157 SNPs
constructed using whole-genome sequence data from 20 studies of predominantly …
constructed using whole-genome sequence data from 20 studies of predominantly …
Complex genetic signatures in immune cells underlie autoimmunity and inform therapy
We report on the influence of~ 22 million variants on 731 immune cell traits in a cohort of
3,757 Sardinians. We detected 122 significant (P< 1.28× 10− 11) independent association …
3,757 Sardinians. We detected 122 significant (P< 1.28× 10− 11) independent association …
Causal role of immune cells in schizophrenia: Mendelian randomization (MR) study
C Wang, D Zhu, D Zhang, X Zuo, L Yao, T Liu, X Ge… - BMC psychiatry, 2023 - Springer
Background Complex immune-brain interactions that affect neural development, survival
and function might have causal and therapeutic implications for psychiatric illnesses …
and function might have causal and therapeutic implications for psychiatric illnesses …
Genetics of blood lipids among~ 300,000 multi-ethnic participants of the Million Veteran Program
Abstract The Million Veteran Program (MVP) was established in 2011 as a national research
initiative to determine how genetic variation influences the health of US military veterans …
initiative to determine how genetic variation influences the health of US military veterans …
Rare and low-frequency coding variants alter human adult height
Height is a highly heritable, classic polygenic trait with approximately 700 common
associated variants identified through genome-wide association studies so far. Here, we …
associated variants identified through genome-wide association studies so far. Here, we …