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

Deciphering the genetic architecture of atrial fibrillation offers insights into disease prediction, pathophysiology and downstream sequelae
Deciphering the genetic architecture of atrial fibrillation offers insights into disease prediction, pathophysiology and downstream sequelae
Shuai Yuan, Yuying Li, Lijuan Wang, Fengzhe Xu, Jie Chen, ..., Agneta Åkesson, Karl Michaëlsson, Xue Li, Xia Shen, Susanna C. Larsson
Cold Spring Harbor Laboratory   ·   25 Jul 2023   ·   doi:10.1101/2023.07.20.23292938
G6PC2 controls glucagon secretion by defining the setpoint for glucose in pancreatic α-cells
G6PC2 controls glucagon secretion by defining the setpoint for glucose in pancreatic α-cells
Varun Bahl, Eric Waite, Reut Rifkind, Zenab Hamdan, Catherine Lee May, ..., Mark Tigue, Nicholas Manuto, Benjamin Glaser, Dana Avrahami, Klaus H. Kaestner
Cold Spring Harbor Laboratory   ·   24 May 2023   ·   doi:10.1101/2023.05.23.541901
Evaluation of the Performance of the RECODe Equation with the Addition of Polygenic Risk Scores for Adverse Cardiovascular Outcomes in Individuals with Type II Diabetes
Evaluation of the Performance of the RECODe Equation with the Addition of Polygenic Risk Scores for Adverse Cardiovascular Outcomes in Individuals with Type II Diabetes
Noah L. Tsao, Renae Judy, Michael G. Levin, Gabrielle Shakt, Benjamin F. Voight, Jinbo Chen, Scott M. Damrauer
Cold Spring Harbor Laboratory   ·   05 May 2023   ·   doi:10.1101/2023.05.03.23289457
Evaluation of plasma biomarkers for causal association with peripheral artery disease
Evaluation of plasma biomarkers for causal association with peripheral artery disease
Pranav Sharma, Michael G. Levin, Derek Klarin, Benjamin F. Voight, Philip S. Tsao, Scott M. Damrauer
Cold Spring Harbor Laboratory   ·   05 May 2023   ·   doi:10.1101/2023.05.05.23289560

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
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

2021

Mendelian randomization analyses clarify the effects of height on cardiovascular diseases
Mendelian randomization analyses clarify the effects of height on cardiovascular diseases
Daniel Hui, Eric Sanford, Kimberly Lorenz, Scott M. Damrauer, Themistocles L. Assimes, Christopher S. Thom, Benjamin F. Voight
Cold Spring Harbor Laboratory   ·   17 Dec 2021   ·   doi:10.1101/2021.12.16.21267869
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
Obesity and adiposity have opposing genetic impacts on human blood traits
Obesity and adiposity have opposing genetic impacts on human blood traits
Christopher S Thom, Madison B Wilken, Stella T Chou, Benjamin F Voight
Cold Spring Harbor Laboratory   ·   07 Nov 2021   ·   doi:10.1101/2021.11.05.467482
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
Evaluation of height as a disease risk factor through a phenome-wide association study of genetically-predicted height
Evaluation of height as a disease risk factor through a phenome-wide association study of genetically-predicted height
Sridharan Raghavan, Jie Huang, Catherine Tcheandjieu, Jennifer E. Huffman, Elizabeth Litkowski, ..., Kyong-Mi Chang, Kelly Cho, Christopher J. O’Donnell, Yan V. Sun, Themistocles L. Assimes
Cold Spring Harbor Laboratory   ·   30 Aug 2021   ·   doi:10.1101/2021.08.29.21262793
Separating the direct effects of risk factors for atherosclerotic cardiovascular disease from those mediated by type 2 diabetes
Separating the direct effects of risk factors for atherosclerotic cardiovascular disease from those mediated by type 2 diabetes
Venexia M Walker, Marijana Vujkovic, Alice R Carter, Neil M Davies, Miriam S Udler, Michael G Levin, George Davey Smith, Benjamin F Voight, Tom R Gaunt, Scott M Damrauer
Cold Spring Harbor Laboratory   ·   07 Aug 2021   ·   doi:10.1101/2021.08.05.21261658
Multi-ancestry Multivariate Genome-Wide Analysis Highlights the Role of Common Genetic Variation in Cardiac Structure, Function, and Heart Failure-related Traits
Multi-ancestry Multivariate Genome-Wide Analysis Highlights the Role of Common Genetic Variation in Cardiac Structure, Function, and Heart Failure-related Traits
Michael G. Levin, Noah L. Tsao, Tiffany R. Bellomo, William P. Bone, Krishna G. Aragam, ..., Sharlene M. Day, Patrick T. Ellinor, Kenneth B. Margulies, Benjamin F. Voight, Scott M. Damrauer
Cold Spring Harbor Laboratory   ·   05 Aug 2021   ·   doi:10.1101/2021.08.03.21261508
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
Cold Spring Harbor Laboratory   ·   06 Jul 2021   ·   doi:10.1101/2021.07.05.450786
Multi-trait GWAS of atherosclerosis detects novel pleiotropic loci
Multi-trait GWAS of atherosclerosis detects novel pleiotropic loci
Tiffany R. Bellomo, William P. Bone, Brian Y. Chen, Katerina A. B. Gawronski, David Zhang, ..., Phil S. Tsao, Daniel J. Rader, Marylyn D. Ritchie, Benjamin F. Voight, Scott M. Damrauer
Cold Spring Harbor Laboratory   ·   23 May 2021   ·   doi:10.1101/2021.05.21.21257493
A Phenome-Wide Association Study of genes associated with COVID-19 severity reveals shared genetics with complex diseases in the Million Veteran Program
A Phenome-Wide Association Study of genes associated with COVID-19 severity reveals shared genetics with complex diseases in the Million Veteran Program
Anurag Verma, Noah Tsao, Lauren Thomann, Yuk-Lam Ho, Sudha Iyengar, ..., Philip S. Tsao, J. Michael Gaziano, Christopher O’Donnell, Scott Damrauer, Katherine Liao
Cold Spring Harbor Laboratory   ·   23 May 2021   ·   doi:10.1101/2021.05.18.21257396
Prioritizing the Role of Major Lipoproteins and Subfractions as Risk Factors for Peripheral Artery Disease
Prioritizing the Role of Major Lipoproteins and Subfractions as Risk Factors for Peripheral Artery Disease
Michael G. Levin, Verena Zuber, Venexia M. Walker, Derek Klarin, Julie Lynch, ..., Philip S. Tsao, Benjamin F. Voight, Dipender Gill, Stephen Burgess, Scott M. Damrauer
Cold Spring Harbor Laboratory   ·   15 Jan 2021   ·   doi:10.1101/2021.01.11.21249148
A trans-ancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation
A trans-ancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation
Marijana Vujkovic, Shweta Ramdas, Kimberly M. Lorenz, Xiuqing Guo, Rebecca Darlay, ..., Jerome I. Rotter, Julie A. Lynch, Daniel J. Rader, Benjamin F. Voight, Kyong-Mi Chang
Cold Spring Harbor Laboratory   ·   02 Jan 2021   ·   doi:10.1101/2020.12.26.20248491

2020

Mapping the genetic architecture of human traits to cell types in the kidney identifies mechanisms of disease and potential treatments
Mapping the genetic architecture of human traits to cell types in the kidney identifies mechanisms of disease and potential treatments
Xin Sheng, Ziyuan Ma, Junnan Wu, Hongbo Liu, Chengxiang Qiu, ..., Mingyao Li, Benjamin Voight, Thomas Coffman, Christopher D. Brown, Katalin Susztak
Cold Spring Harbor Laboratory   ·   10 Nov 2020   ·   doi:10.1101/2020.11.09.375592
Multi-trait association studies discover pleiotropic loci between Alzheimer’s disease and cardiometabolic traits
Multi-trait association studies discover pleiotropic loci between Alzheimer’s disease and cardiometabolic traits
William P. Bone, Katherine M. Siewert, Anupama Jha, Derek Klarin, Scott M. Damrauer, Kyong-Mi Chang, Philip S. Tsao, Themistocles L. Assimes, Marylyn D. Ritchie, Benjamin F. Voight
Cold Spring Harbor Laboratory   ·   01 Sep 2020   ·   doi:10.1101/2020.08.26.20179366
Genetic Variation in Blood Pressure and Lifetime Risk of Peripheral Artery Disease: A Mendelian Randomization Study
Genetic Variation in Blood Pressure and Lifetime Risk of Peripheral Artery Disease: A Mendelian Randomization Study
Michael G. Levin, Derek Klarin, Venexia M. Walker, Dipender Gill, Julie Lynch, ..., Neil M. Davies, Philip S. Tsao, Kyong-Mi Chang, Benjamin F. Voight, Scott M. Damrauer
Cold Spring Harbor Laboratory   ·   25 Aug 2020   ·   doi:10.1101/2020.08.23.20180240
Cis-regulatory architecture of human ESC-derived hypothalamic neuron differentiation aids in variant-to-gene mapping of relevant complex traits
Cis-regulatory architecture of human ESC-derived hypothalamic neuron differentiation aids in variant-to-gene mapping of relevant complex traits
Matthew C. Pahl, Claudia A. Doege, Kenyaita M. Hodge, Sheridan H. Littleton, Michelle E. Leonard, ..., Andrew D. Wells, Benjamin F. Voight, Rudolph L. Leibel, Diana L. Cousminer, Struan F.A. Grant
Cold Spring Harbor Laboratory   ·   06 Jul 2020   ·   doi:10.1101/2020.07.06.146951
Genetics of Smoking and Risk of Atherosclerotic Cardiovascular Diseases: A Mendelian Randomization Study
Genetics of Smoking and Risk of Atherosclerotic Cardiovascular Diseases: A Mendelian Randomization Study
Michael G. Levin, Derek Klarin, Themistocles L. Assimes, Matthew S. Freiberg, Erik Ingelsson, ..., Daniel J. Rader, Philip S. Tsao, Kyong-Mi Chang, Benjamin F. Voight, Scott M. Damrauer
Cold Spring Harbor Laboratory   ·   08 Apr 2020   ·   doi:10.1101/2020.04.07.20053447
Genome-wide association study implicates novel loci and reveals candidate effector genes for longitudinal pediatric bone accrual through variant-to-gene mapping
Genome-wide association study implicates novel loci and reveals candidate effector genes for longitudinal pediatric bone accrual through variant-to-gene mapping
Diana L. Cousminer, Yadav Wagley, James A. Pippin, Ahmed Elhakeem, Gregory P. Way, ..., Benjamin F. Voight, Andrew D. Wells, Babette S. Zemel, Kurt Hankenson, Struan F. A. Grant
Cold Spring Harbor Laboratory   ·   20 Feb 2020   ·   doi:10.1101/2020.02.17.20024133
Genetically determined body mass index mediates the effect of smoking on type 2 diabetes risk, but not coronary artery disease risk
Genetically determined body mass index mediates the effect of smoking on type 2 diabetes risk, but not coronary artery disease risk
Christopher S Thom, Zhuoran Ding, Michael G Levin, Scott M Damrauer, Benjamin F Voight
Cold Spring Harbor Laboratory   ·   03 Feb 2020   ·   doi:10.1101/2020.01.30.20019737

2019

Genetics of Height and Risk of Atrial Fibrillation: A Mendelian Randomization Study
Genetics of Height and Risk of Atrial Fibrillation: A Mendelian Randomization Study
Michael G. Levin, Renae Judy, Dipender Gill, Marijana Vujkovic, Matthew C. Hyman, Saman Nazarian, Daniel J. Rader, Benjamin F. Voight, Scott M. Damrauer
Cold Spring Harbor Laboratory   ·   30 Dec 2019   ·   doi:10.1101/2019.12.23.19015743
Discovery of 318 novel loci for type-2 diabetes and related micro- and macrovascular outcomes among 1.4 million participants in a multi-ethnic meta-analysis
Discovery of 318 novel loci for type-2 diabetes and related micro- and macrovascular outcomes among 1.4 million participants in a multi-ethnic meta-analysis
Marijana Vujkovic, Jacob M. Keaton, Julie A. Lynch, Donald R. Miller, Jin Zhou, ..., Christopher J. O’Donnell, Philip S. Tsao, Kyong-Mi Chang, Benjamin F. Voight, Danish Saleheen
Cold Spring Harbor Laboratory   ·   25 Nov 2019   ·   doi:10.1101/19012690
Assessing a causal relationship between circulating lipids and breast cancer risk: Mendelian randomization study
Assessing a causal relationship between circulating lipids and breast cancer risk: Mendelian randomization study
Kelsey E. Johnson, Katherine M. Siewert, Derek Klarin, Scott M. Damrauer, Kyong-Mi Chang, Philip S. Tsao, Themistocles L. Assimes, Kara N. Maxwell, Benjamin F. Voight
Cold Spring Harbor Laboratory   ·   06 Oct 2019   ·   doi:10.1101/794594
Evaluating the contribution of cell-type specific alternative splicing to variation in lipid levels
Evaluating the contribution of cell-type specific alternative splicing to variation in lipid levels
K.A.B. Gawronski, W. Bone, Y. Park, E. Pashos, X. Wang, W. Yang, D. Rader, K. Musunuru, B. Voight, C. Brown
Cold Spring Harbor Laboratory   ·   04 Jun 2019   ·   doi:10.1101/659326
<i>Tropomyosin 1</i> genetically constrains <i>in vitro</i> hematopoiesis
Tropomyosin 1 genetically constrains in vitro hematopoiesis
CS Thom, CD Jobaliya, K Lorenz, JA Maguire, A Gagne, P Gadue, DL French, BF Voight
Cold Spring Harbor Laboratory   ·   08 May 2019   ·   doi:10.1101/631895

2018

Signals of variation in human mutation rate at multiple levels of sequence context
Signals of variation in human mutation rate at multiple levels of sequence context
Rachael C. Aikens, Kelsey E. Johnson, Benjamin F. Voight
Cold Spring Harbor Laboratory   ·   04 Aug 2018   ·   doi:10.1101/385096
Bivariate GWAS scan identifies six novel loci associated with lipid levels and coronary artery disease
Bivariate GWAS scan identifies six novel loci associated with lipid levels and coronary artery disease
Katherine M. Siewert, Benjamin F. Voight
Cold Spring Harbor Laboratory   ·   11 May 2018   ·   doi:10.1101/319848

2017

Multiplexed targeted resequencing identifies coding and regulatory variation underlying phenotypic extremes of HDL-cholesterol in humans
Multiplexed targeted resequencing identifies coding and regulatory variation underlying phenotypic extremes of HDL-cholesterol in humans
Sumeet A. Khetarpal, Paul L. Babb, Wei Zhao, William F. Hancock-Cerutti, Christopher D. Brown, Daniel J. Rader, Benjamin F. Voight
Cold Spring Harbor Laboratory   ·   18 Dec 2017   ·   doi:10.1101/235887
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

Large-scale<i>trans</i>-eQTLs affect hundreds of transcripts and mediate patterns of transcriptional co-regulation Short:<i>trans</i>-eQTLs reveal patterns of transcriptional co-regulation
Large-scaletrans-eQTLs affect hundreds of transcripts and mediate patterns of transcriptional co-regulation Short:trans-eQTLs reveal patterns of transcriptional co-regulation
Boel Brynedal, JinMyung Choi, Towfique Raj, Robert Bjornson, Barbara E Stranger, Benjamin M Neale, Benjamin F Voight, Chris Cotsapas
Cold Spring Harbor Laboratory   ·   31 May 2016   ·   doi:10.1101/056283

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