LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and …
J Zheng, AM Erzurumluoglu, BL Elsworth… - …, 2017 - academic.oup.com
Motivation LD score regression is a reliable and efficient method of using genome-wide
association study (GWAS) summary-level results data to estimate the SNP heritability of …
association study (GWAS) summary-level results data to estimate the SNP heritability of …
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 …
Detection and interpretation of shared genetic influences on 42 human traits
We performed a scan for genetic variants associated with multiple phenotypes by comparing
large genome-wide association studies (GWAS) of 42 traits or diseases. We identified 341 …
large genome-wide association studies (GWAS) of 42 traits or diseases. We identified 341 …
Protein-coding repeat polymorphisms strongly shape diverse human phenotypes
Many human proteins contain domains that vary in size or copy number because of variable
numbers of tandem repeats (VNTRs) in protein-coding exons. However, the relationships of …
numbers of tandem repeats (VNTRs) in protein-coding exons. However, the relationships of …
[HTML][HTML] Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes
Abstract Type 2 diabetes (T2D) is a very common disease in humans. Here we conduct a
meta-analysis of genome-wide association studies (GWAS) with~ 16 million genetic variants …
meta-analysis of genome-wide association studies (GWAS) with~ 16 million genetic variants …
[HTML][HTML] Whole-genome sequencing reveals host factors underlying critical COVID-19
A Kousathanas, E Pairo-Castineira, K Rawlik… - Nature, 2022 - nature.com
Critical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic
variation influences the development of illness requiring critical care or hospitalization,–after …
variation influences the development of illness requiring critical care or hospitalization,–after …
FINEMAP: efficient variable selection using summary data from genome-wide association studies
C Benner, CCA Spencer, AS Havulinna… - …, 2016 - academic.oup.com
Motivation: The goal of fine-mapping in genomic regions associated with complex diseases
and traits is to identify causal variants that point to molecular mechanisms behind the …
and traits is to identify causal variants that point to molecular mechanisms behind the …
[PDF][PDF] Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases
Regulatory and coding variants are known to be enriched with associations identified by
genome-wide association studies (GWASs) of complex disease, but their contributions to …
genome-wide association studies (GWASs) of complex disease, but their contributions to …
A large electronic-health-record-based genome-wide study of serum lipids
TJ Hoffmann, E Theusch, T Haldar, DK Ranatunga… - Nature …, 2018 - nature.com
A genome-wide association study (GWAS) of 94,674 ancestrally diverse Kaiser Permanente
members using 478,866 longitudinal electronic health record (EHR)-derived measurements …
members using 478,866 longitudinal electronic health record (EHR)-derived measurements …
[HTML][HTML] Integrating functional data to prioritize causal variants in statistical fine-mapping studies
Standard statistical approaches for prioritization of variants for functional testing in fine-
mapping studies either use marginal association statistics or estimate posterior probabilities …
mapping studies either use marginal association statistics or estimate posterior probabilities …