Benefits and limitations of genome-wide association studies
Genome-wide association studies (GWAS) involve testing genetic variants across the
genomes of many individuals to identify genotype–phenotype associations. GWAS have …
genomes of many individuals to identify genotype–phenotype associations. GWAS have …
Rare-variant association analysis: study designs and statistical tests
Despite the extensive discovery of trait-and disease-associated common variants, much of
the genetic contribution to complex traits remains unexplained. Rare variants can explain …
the genetic contribution to complex traits remains unexplained. Rare variants can explain …
New insights into the genetic etiology of Alzheimer's disease and related dementias
Abstract Characterization of the genetic landscape of Alzheimer's disease (AD) and related
dementias (ADD) provides a unique opportunity for a better understanding of the associated …
dementias (ADD) provides a unique opportunity for a better understanding of the associated …
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease
R Sims, SJ Van Der Lee, AC Naj, C Bellenguez… - Nature …, 2017 - nature.com
We identified rare coding variants associated with Alzheimer's disease in a three-stage case–
control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole …
control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole …
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 …
Polygenic risk score identifies subgroup with higher burden of atherosclerosis and greater relative benefit from statin therapy in the primary prevention setting
Background: Relative risk reduction with statin therapy has been consistent across nearly all
subgroups studied to date. However, in analyses of 2 randomized controlled primary …
subgroups studied to date. However, in analyses of 2 randomized controlled primary …
Genome‐wide mapping of plasma protein QTLs identifies putatively causal genes and pathways for cardiovascular disease
Identifying genetic variants associated with circulating protein concentrations (protein
quantitative trait loci; pQTLs) and integrating them with variants from genome-wide …
quantitative trait loci; pQTLs) and integrating them with variants from genome-wide …
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease
We conducted a meta-analysis of Parkinson's disease genome-wide association studies
using a common set of 7,893,274 variants across 13,708 cases and 95,282 controls. Twenty …
using a common set of 7,893,274 variants across 13,708 cases and 95,282 controls. Twenty …
Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes
We aggregated coding variant data for 81,412 type 2 diabetes cases and 370,832 controls
of diverse ancestry, identifying 40 coding variant association signals (P< 2.2× 10− 7); of …
of diverse ancestry, identifying 40 coding variant association signals (P< 2.2× 10− 7); of …
Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease
Crohn's disease (CD), a form of inflammatory bowel disease, has a higher prevalence in
Ashkenazi Jewish than in non-Jewish European populations. To define the role of …
Ashkenazi Jewish than in non-Jewish European populations. To define the role of …