From genome-wide associations to candidate causal variants by statistical fine-mapping
Advancing from statistical associations of complex traits with genetic markers to
understanding the functional genetic variants that influence traits is often a complex process …
understanding the functional genetic variants that influence traits is often a complex process …
Statistical power and significance testing in large-scale genetic studies
PC Sham, SM Purcell - Nature Reviews Genetics, 2014 - nature.com
Significance testing was developed as an objective method for summarizing statistical
evidence for a hypothesis. It has been widely adopted in genetic studies, including genome …
evidence for a hypothesis. It has been widely adopted in genetic studies, including genome …
[HTML][HTML] Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations
CG Boer, K Hatzikotoulas, L Southam, L Stefánsdóttir… - Cell, 2021 - cell.com
Osteoarthritis affects over 300 million people worldwide. Here, we conduct a genome-wide
association study meta-analysis across 826,690 individuals (177,517 with osteoarthritis) and …
association study meta-analysis across 826,690 individuals (177,517 with osteoarthritis) and …
[HTML][HTML] A single-cell atlas of chromatin accessibility in the human genome
Current catalogs of regulatory sequences in the human genome are still incomplete and lack
cell type resolution. To profile the activity of gene regulatory elements in diverse cell types …
cell type resolution. To profile the activity of gene regulatory elements in diverse cell types …
Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer's disease risk genes
J Schwartzentruber, S Cooper, JZ Liu… - Nature …, 2021 - nature.com
Genome-wide association studies have discovered numerous genomic loci associated with
Alzheimer's disease (AD); yet the causal genes and variants are incompletely identified. We …
Alzheimer's disease (AD); yet the causal genes and variants are incompletely identified. We …
Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics
Abstract Open Targets Genetics (https://genetics. opentargets. org) is an open-access
integrative resource that aggregates human GWAS and functional genomics data including …
integrative resource that aggregates human GWAS and functional genomics data including …
Interpreting type 1 diabetes risk with genetics and single-cell epigenomics
Genetic risk variants that have been identified in genome-wide association studies of
complex diseases are primarily non-coding. Translating these risk variants into mechanistic …
complex diseases are primarily non-coding. Translating these risk variants into mechanistic …
An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci
Genome-wide association studies (GWASs) have identified many variants associated with
complex traits, but identifying the causal gene (s) is a major challenge. In the present study …
complex traits, but identifying the causal gene (s) is a major challenge. In the present study …
[HTML][HTML] Fine-mapping from summary data with the “Sum of Single Effects” model
In recent work, Wang et al introduced the “Sum of Single Effects”(SuSiE) model, and showed
that it provides a simple and efficient approach to fine-mapping genetic variants from …
that it provides a simple and efficient approach to fine-mapping genetic variants from …
[HTML][HTML] Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations
Most loci identified by GWASs have been found in populations of European ancestry (EUR).
In trans-ethnic meta-analyses for 15 hematological traits in 746,667 participants, including …
In trans-ethnic meta-analyses for 15 hematological traits in 746,667 participants, including …