From genome-wide associations to candidate causal variants by statistical fine-mapping

DJ Schaid, W Chen, NB Larson - Nature Reviews Genetics, 2018 - nature.com
Advancing from statistical associations of complex traits with genetic markers to
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 …

[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 …

[HTML][HTML] A single-cell atlas of chromatin accessibility in the human genome

K Zhang, JD Hocker, M Miller, X Hou, J Chiou… - Cell, 2021 - cell.com
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 …

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 …

Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics

M Ghoussaini, E Mountjoy, M Carmona… - Nucleic acids …, 2021 - academic.oup.com
Abstract Open Targets Genetics (https://genetics. opentargets. org) is an open-access
integrative resource that aggregates human GWAS and functional genomics data including …

Interpreting type 1 diabetes risk with genetics and single-cell epigenomics

J Chiou, RJ Geusz, ML Okino, JY Han, M Miller… - Nature, 2021 - nature.com
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 …

An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci

E Mountjoy, EM Schmidt, M Carmona… - Nature …, 2021 - nature.com
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 …

[HTML][HTML] Fine-mapping from summary data with the “Sum of Single Effects” model

Y Zou, P Carbonetto, G Wang, M Stephens - PLoS genetics, 2022 - journals.plos.org
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 …

[HTML][HTML] Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations

MH Chen, LM Raffield, A Mousas, S Sakaue… - Cell, 2020 - cell.com
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 …