The OncoArray Consortium: a network for understanding the genetic architecture of common cancers

CI Amos, J Dennis, Z Wang, J Byun… - … , biomarkers & prevention, 2017 - AACR
Background: Common cancers develop through a multistep process often including
inherited susceptibility. Collaboration among multiple institutions, and funding from multiple …

[PDF][PDF] The genetics of transcription factor DNA binding variation

B Deplancke, D Alpern, V Gardeux - Cell, 2016 - cell.com
Most complex trait-associated variants are located in non-coding regulatory regions of the
genome, where they have been shown to disrupt transcription factor (TF)-DNA binding …

Systematic differences in discovery of genetic effects on gene expression and complex traits

H Mostafavi, JP Spence, S Naqvi, JK Pritchard - Nature Genetics, 2023 - nature.com
Most signals in genome-wide association studies (GWAS) of complex traits implicate
noncoding genetic variants with putative gene regulatory effects. However, currently …

[HTML][HTML] Cells of the human intestinal tract mapped across space and time

R Elmentaite, N Kumasaka, K Roberts, A Fleming… - Nature, 2021 - nature.com
The cellular landscape of the human intestinal tract is dynamic throughout life, developing in
utero and changing in response to functional requirements and environmental exposures …

[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 …

A simple new approach to variable selection in regression, with application to genetic fine mapping

G Wang, A Sarkar, P Carbonetto… - Journal of the Royal …, 2020 - academic.oup.com
We introduce a simple new approach to variable selection in linear regression, with a
particular focus on quantifying uncertainty in which variables should be selected. The …

The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans

GTEx Consortium, KG Ardlie, DS Deluca, AV Segrè… - Science, 2015 - science.org
Understanding the functional consequences of genetic variation, and how it affects complex
human disease and quantitative traits, remains a critical challenge for biomedicine. We …

Transcription factors operate across disease loci, with EBNA2 implicated in autoimmunity

JB Harley, X Chen, M Pujato, D Miller, A Maddox… - Nature …, 2018 - nature.com
Explaining the genetics of many diseases is challenging because most associations localize
to incompletely characterized regulatory regions. Using new computational methods, we …

Gene expression elucidates functional impact of polygenic risk for schizophrenia

M Fromer, P Roussos, SK Sieberts, JS Johnson… - Nature …, 2016 - nature.com
Over 100 genetic loci harbor schizophrenia-associated variants, yet how these variants
confer liability is uncertain. The CommonMind Consortium sequenced RNA from …

Transcriptome and genome sequencing uncovers functional variation in humans

T Lappalainen, M Sammeth, MR Friedländer… - Nature, 2013 - nature.com
Genome sequencing projects are discovering millions of genetic variants in humans, and
interpretation of their functional effects is essential for understanding the genetic basis of …