Voight Lab

Publications

We have created extensive scholarship around method development and analysis of genetic data in humans, the central focus of my lab.

My roots began in population genetics, aiming to understand how the genome reveals details of our evolutionary history. Today, we are very are active in the development of methods in population genomics, which include characterization of mutation rates and studies of natural selection in human populations.

We are actively interested in the genetic dissection of complex traits. The statistical pipelines that we have developed and applied over my career have resulting in discovery of thousands of loci for complex traits, focused on type 2 diabetes, cardiovascular disease, and liver disease. This also include mapping of genetic variation associated with molecular phenotypes (eQTLs, sQTLs, caQTLs, etc.) using bulk tissue, cell model, and even single-cell resources in tissues relevant to these endpoints (e.g., pancreas).

We also have an active interest in the application of Mendelian randomization (MR) to evaluate causal hypotheses between biomarkers and cardiometabolic endpoints, including most famously rejecting a protective role for HDL Cholesterol in heart disease.

I need to prettify the publication listing below (Work in progress)!

But feel free to follow the Pubmed and Google Scholar links below to see a full list of my publications.

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2025

2024

2023

Projecting genetic associations through gene expression patterns highlights disease etiology and drug mechanisms
Projecting genetic associations through gene expression patterns highlights disease etiology and drug mechanisms
Milton Pividori, Sumei Lu, Binglan Li, Chun Su, Matthew E. Johnson, ..., Benjamin F. Voight, Carsten Skarke, Marylyn D. Ritchie, Struan F. A. Grant, Casey S. Greene
Nature Communications   ·   09 Sep 2023   ·   doi:10.1038/s41467-023-41057-4
Regularized sequence-context mutational trees capture variation in mutation rates across the human genome
Regularized sequence-context mutational trees capture variation in mutation rates across the human genome
Christopher J. Adams, Mitchell Conery, Benjamin J. Auerbach, Shane T. Jensen, Iain Mathieson, Benjamin F. Voight
PLOS Genetics   ·   07 Jul 2023   ·   doi:10.1371/journal.pgen.1010807

2022

Regularized sequence-context mutational trees capture variation in mutation rates across the human genome
Regularized sequence-context mutational trees capture variation in mutation rates across the human genome
Christopher J. Adams, Mitchell Conery, Benjamin J. Auerbach, Shane T. Jensen, Iain Mathieson, Benjamin F. Voight
Cold Spring Harbor Laboratory   ·   17 Oct 2022   ·   doi:10.1101/2022.10.14.512160
ColocQuiaL: a QTL-GWAS colocalization pipeline
ColocQuiaL: a QTL-GWAS colocalization pipeline
Brian Y Chen, William P Bone, Kim Lorenz, Michael Levin, Marylyn D Ritchie, Benjamin F Voight
Bioinformatics   ·   27 Jul 2022   ·   doi:10.1093/bioinformatics/btac512
Estimating the effect size of a hidden causal factor between SNPs and a continuous trait: a mediation model approach
Estimating the effect size of a hidden causal factor between SNPs and a continuous trait: a mediation model approach
Zhuoran Ding, Marylyn D. Ritchie, Benjamin F. Voight, Wei-Ting Hwang
Cold Spring Harbor Laboratory   ·   29 Jun 2022   ·   doi:10.1101/2022.06.28.497617
TSABL: Trait Specific Annotation Based Locus predictor
TSABL: Trait Specific Annotation Based Locus predictor
Kim Lorenz, Christopher S. Thom, Sanjana Adurty, Benjamin F. Voight
BMC Genomics   ·   15 Jun 2022   ·   doi:10.1186/s12864-022-08654-x

2021

ColocQuiaL: A QTL-GWAS colocalization pipeline
ColocQuiaL: A QTL-GWAS colocalization pipeline
Brian Y. Chen, William P. Bone, Kimberly Lorenz, Michael Levin, Marylyn D. Ritchie, Benjamin F. Voight
Cold Spring Harbor Laboratory   ·   09 Nov 2021   ·   doi:10.1101/2021.11.05.21265991
TSABL: Trait Specific Annotation Based Locus Predictor
TSABL: Trait Specific Annotation Based Locus Predictor
Kimberly Lorenz, Christopher S. Thom, Sanjana Adurty, Benjamin F. Voight
Cold Spring Harbor Laboratory   ·   29 Sep 2021   ·   doi:10.1101/2021.09.27.21264198

2020

2019

2018

Patterns of shared signatures of recent positive selection across human populations
Patterns of shared signatures of recent positive selection across human populations
Kelsey Elizabeth Johnson, Benjamin F. Voight
Nature Ecology & Evolution   ·   19 Feb 2018   ·   doi:10.1038/s41559-018-0478-6

2017

Detecting Long-Term Balancing Selection Using Allele Frequency Correlation
Detecting Long-Term Balancing Selection Using Allele Frequency Correlation
Katherine M. Siewert, Benjamin F. Voight
Molecular Biology and Evolution   ·   21 Jul 2017   ·   doi:10.1093/molbev/msx209
Detecting Long-term Balancing Selection using Allele Frequency Correlation
Detecting Long-term Balancing Selection using Allele Frequency Correlation
Katherine M. Siewert, Benjamin F. Voight
Cold Spring Harbor Laboratory   ·   01 Mar 2017   ·   doi:10.1101/112870
Patterns of shared signatures of recent positive selection across human populations
Patterns of shared signatures of recent positive selection across human populations
Kelsey Elizabeth Johnson, Benjamin F. Voight
Cold Spring Harbor Laboratory   ·   17 Feb 2017   ·   doi:10.1101/109371

2016

2015

2014

2013

2012

2011

Pervasive Sharing of Genetic Effects in Autoimmune Disease
Pervasive Sharing of Genetic Effects in Autoimmune Disease
Chris Cotsapas, Benjamin F. Voight, Elizabeth Rossin, Kasper Lage, Benjamin M. Neale, ..., Jane Worthington, John A. Todd, David A. Hafler, Stephen S. Rich, Mark J. Daly
PLoS Genetics   ·   10 Aug 2011   ·   doi:10.1371/journal.pgen.1002254
Testing for an Unusual Distribution of Rare Variants
Testing for an Unusual Distribution of Rare Variants
Benjamin M. Neale, Manuel A. Rivas, Benjamin F. Voight, David Altshuler, Bernie Devlin, Marju Orho-Melander, Sekar Kathiresan, Shaun M. Purcell, Kathryn Roeder, Mark J. Daly
PLoS Genetics   ·   03 Mar 2011   ·   doi:10.1371/journal.pgen.1001322

2010

2009

2008

2007

2006

A Map of Recent Positive Selection in the Human Genome
A Map of Recent Positive Selection in the Human Genome
Benjamin F Voight, Sridhar Kudaravalli, Xiaoquan Wen, Jonathan K Pritchard
PLoS Biology   ·   07 Mar 2006   ·   doi:10.1371/journal.pbio.0040072

2005