Atropos: specific, sensitive, and speedy trimming of sequencing reads

by John P. Didion, Marcel Martin, Francis S. Collins
Published 2017-08-01

Alternative splicing of TCF7L2 gene in omental and subcutaneous adipose tissue and risk of type 2 diabetes.

by Ludmila Prokunina-Olsson, Lee M Kaplan, Eric E Schadt, Francis S Collins
Published 2009-09-01

The mutant form of lamin A that causes Hutchinson-Gilford progeria is a biomarker of cellular aging in human skin.

by Dayle McClintock, Desiree Ratner, Meepa Lokuge, David M Owens, Leslie B Gordon, Francis S Collins, Karima Djabali
Published 2007-12-01

The Metabolic Syndrome in Men study: a resource for studies of metabolic and cardiovascular diseases

by Markku Laakso, Johanna Kuusisto, Alena Stančáková, Teemu Kuulasmaa, Päivi Pajukanta, Aldons J. Lusis, Francis S. Collins, Karen L. Mohlke, Michael Boehnke
Published 2017-03-01

A panel of diverse assays to interrogate the interaction between glucokinase and glucokinase regulatory protein, two vital proteins in human disease.

by Matthew G Rees, Mindy I Davis, Min Shen, Steve Titus, Anne Raimondo, Amy Barrett, Anna L Gloyn, Francis S Collins, Anton Simeonov
Published 2014-01-01

Distribution of Menin-Occupied Regions in Chromatin Specifies a Broad Role of Menin in Transcriptional Regulation

by Sunita K. Agarwal, Soren Impey, Shannon McWeeney, Peter C. Scacheri, Francis S. Collins, Richard H. Goodman, Allen M. Spiegel, Stephen J. Marx
Published 2007-02-01

BoostMe accurately predicts DNA methylation values in whole-genome bisulfite sequencing of multiple human tissues

by Luli S. Zou, Michael R. Erdos, D. Leland Taylor, Peter S. Chines, Arushi Varshney, The McDonnell Genome Institute, Stephen C. J. Parker, Francis S. Collins, John P. Didion
Published 2018-05-01

Genome-wide analysis of menin binding provides insights into MEN1 tumorigenesis.

by Peter C Scacheri, Sean Davis, Duncan T Odom, Gregory E Crawford, Stacie Perkins, Mohamad J Halawi, Sunita K Agarwal, Stephen J Marx, Allen M Spiegel, Paul S Meltzer, Francis S Collins
Published 2006-04-01

Single-cell ATAC-Seq in human pancreatic islets and deep learning upscaling of rare cells reveals cell-specific type 2 diabetes regulatory signatures

by Vivek Rai, Daniel X. Quang, Michael R. Erdos, Darren A. Cusanovich, Riza M. Daza, Narisu Narisu, Luli S. Zou, John P. Didion, Yuanfang Guan, Jay Shendure, Stephen C.J. Parker, Francis S. Collins
Published 2020-02-01

Trans-ancestry Fine Mapping and Molecular Assays Identify Regulatory Variants at the ANGPTL8 HDL-C GWAS Locus

by Maren E. Cannon, Qing Duan, Ying Wu, Monica Zeynalzadeh, Zheng Xu, Antti J. Kangas, Pasi Soininen, Mika Ala-Korpela, Mete Civelek, Aldons J. Lusis, Johanna Kuusisto, Francis S. Collins, Michael Boehnke, Hua Tang, Markku Laakso, Yun Li, Karen L. Mohlke
Published 2017-09-01

Household air pollution in low- and middle-income countries: health risks and research priorities.

by William J Martin, Roger I Glass, Houmam Araj, John Balbus, Francis S Collins, Siân Curtis, Gregory B Diette, William N Elwood, Henry Falk, Patricia L Hibberd, Susan E J Keown, Sumi Mehta, Erin Patrick, Julia Rosenbaum, Amir Sapkota, H Eser Tolunay, Nigel G Bruce
Published 2013-01-01

Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study.

by James P Davis, Jeroen R Huyghe, Adam E Locke, Anne U Jackson, Xueling Sim, Heather M Stringham, Tanya M Teslovich, Ryan P Welch, Christian Fuchsberger, Narisu Narisu, Peter S Chines, Antti J Kangas, Pasi Soininen, Mika Ala-Korpela, Johanna Kuusisto, Francis S Collins, Markku Laakso, Michael Boehnke, Karen L Mohlke
Published 2017-10-01

Adiponectin GWAS loci harboring extensive allelic heterogeneity exhibit distinct molecular consequences.

by Cassandra N Spracklen, Apoorva K Iyengar, Swarooparani Vadlamudi, Chelsea K Raulerson, Anne U Jackson, Sarah M Brotman, Ying Wu, Maren E Cannon, James P Davis, Aaron T Crain, Kevin W Currin, Hannah J Perrin, Narisu Narisu, Heather M Stringham, Christian Fuchsberger, Adam E Locke, Ryan P Welch, Johanna K Kuusisto, Päivi Pajukanta, Laura J Scott, Yun Li, Francis S Collins, Michael Boehnke, Markku Laakso, Karen L Mohlke
Published 2020-09-01

Interactions between genetic variation and cellular environment in skeletal muscle gene expression.

by D Leland Taylor, David A Knowles, Laura J Scott, Andrea H Ramirez, Francesco Paolo Casale, Brooke N Wolford, Li Guan, Arushi Varshney, Ricardo D'Oliveira Albanus, Stephen C J Parker, Narisu Narisu, Peter S Chines, Michael R Erdos, Ryan P Welch, Leena Kinnunen, Jouko Saramies, Jouko Sundvall, Timo A Lakka, Markku Laakso, Jaakko Tuomilehto, Heikki A Koistinen, Oliver Stegle, Michael Boehnke, Ewan Birney, Francis S Collins
Published 2018-01-01

Evaluation of Genome Wide Association Study Associated Type 2 Diabetes Susceptibility Loci in Sub Saharan Africans

by Adebowale eAdeyemo, Fasil eTekola-Ayele, Ayo Priscille Doumatey, Amy R Bentley, Guanjie eChen, Hanxia eHuang, Jie eZhou, Daniel eShriner, Olufemi eFasanmade, Godfrey eOkafor, Benjamin eEghan, Kofi eAgyenim-Boateng, Jokotade eAdeleye, Williams eBalogun, Abdel eElkahloun, Settara eChandrasekharappa, Samuel eOwusu, Albert eAmoah, Joseph eAcheampong, Thomas eJohnson, Johnnie eOli, Clement eAdebamowo, Francis eCollins, Georgia eDunston, Charles eRotimi
Published 2015-11-01

The genetic regulatory signature of type 2 diabetes in human skeletal muscle

by Laura J. Scott, Michael R. Erdos, Jeroen R. Huyghe, Ryan P. Welch, Andrew T. Beck, Brooke N. Wolford, Peter S. Chines, John P. Didion, Narisu Narisu, Heather M. Stringham, D. Leland Taylor, Anne U. Jackson, Swarooparani Vadlamudi, Lori L. Bonnycastle, Leena Kinnunen, Jouko Saramies, Jouko Sundvall, Ricardo D'Oliveira Albanus, Anna Kiseleva, John Hensley, Gregory E. Crawford, Hui Jiang, Xiaoquan Wen, Richard M. Watanabe, Timo A. Lakka, Karen L. Mohlke, Markku Laakso, Jaakko Tuomilehto, Heikki A. Koistinen, Michael Boehnke, Francis S. Collins, Stephen C. J. Parker
Published 2016-06-01

Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci.

by Susan K Service, Tanya M Teslovich, Christian Fuchsberger, Vasily Ramensky, Pranav Yajnik, Daniel C Koboldt, David E Larson, Qunyuan Zhang, Ling Lin, Ryan Welch, Li Ding, Michael D McLellan, Michele O'Laughlin, Catrina Fronick, Lucinda L Fulton, Vincent Magrini, Amy Swift, Paul Elliott, Marjo-Riitta Jarvelin, Marika Kaakinen, Mark I McCarthy, Leena Peltonen, Anneli Pouta, Lori L Bonnycastle, Francis S Collins, Narisu Narisu, Heather M Stringham, Jaakko Tuomilehto, Samuli Ripatti, Robert S Fulton, Chiara Sabatti, Richard K Wilson, Michael Boehnke, Nelson B Freimer
Published 2014-01-01

Genetic variant effects on gene expression in human pancreatic islets and their implications for T2D

by Ana Viñuela, Arushi Varshney, Martijn van de Bunt, Rashmi B. Prasad, Olof Asplund, Amanda Bennett, Michael Boehnke, Andrew A. Brown, Michael R. Erdos, João Fadista, Ola Hansson, Gad Hatem, Cédric Howald, Apoorva K. Iyengar, Paul Johnson, Ulrika Krus, Patrick E. MacDonald, Anubha Mahajan, Jocelyn E. Manning Fox, Narisu Narisu, Vibe Nylander, Peter Orchard, Nikolay Oskolkov, Nikolaos I. Panousis, Anthony Payne, Michael L. Stitzel, Swarooparani Vadlamudi, Ryan Welch, Francis S. Collins, Karen L. Mohlke, Anna L. Gloyn, Laura J. Scott, Emmanouil T. Dermitzakis, Leif Groop, Stephen C. J. Parker, Mark I. McCarthy
Published 2020-09-01

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

by Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami, Jessica Cannavino, Matthew F. Rose, Nicole M. Gilette, Pietro Artoni, Nara Lygia de Macena Sobreira, Wai-Man Chan, Bryn D. Webb, Caroline D. Robson, Long Cheng, Carol Van Ryzin, Andres Ramirez-Martinez, Payam Mohassel, Mark Leppert, Mary Beth Scholand, Christopher Grunseich, Carlos R. Ferreira, Tyler Hartman, Ian M. Hayes, Tim Morgan, David M. Markie, Michela Fagiolini, Amy Swift, Peter S. Chines, Carlos E. Speck-Martins, Francis S. Collins, Ethylin Wang Jabs, Carsten G. Bönnemann, Eric N. Olson, Moebius Syndrome Research Consortium, John C. Carey, Stephen P. Robertson, Irini Manoli, Elizabeth C. Engle
Published 2017-07-01

Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.

by John R B Perry, Benjamin F Voight, Loïc Yengo, Najaf Amin, Josée Dupuis, Martha Ganser, Harald Grallert, Pau Navarro, Man Li, Lu Qi, Valgerdur Steinthorsdottir, Robert A Scott, Peter Almgren, Dan E Arking, Yurii Aulchenko, Beverley Balkau, Rafn Benediktsson, Richard N Bergman, Eric Boerwinkle, Lori Bonnycastle, Noël P Burtt, Harry Campbell, Guillaume Charpentier, Francis S Collins, Christian Gieger, Todd Green, Samy Hadjadj, Andrew T Hattersley, Christian Herder, Albert Hofman, Andrew D Johnson, Anna Kottgen, Peter Kraft, Yann Labrune, Claudia Langenberg, Alisa K Manning, Karen L Mohlke, Andrew P Morris, Ben Oostra, James Pankow, Ann-Kristin Petersen, Peter P Pramstaller, Inga Prokopenko, Wolfgang Rathmann, William Rayner, Michael Roden, Igor Rudan, Denis Rybin, Laura J Scott, Gunnar Sigurdsson, Rob Sladek, Gudmar Thorleifsson, Unnur Thorsteinsdottir, Jaakko Tuomilehto, Andre G Uitterlinden, Sidonie Vivequin, Michael N Weedon, Alan F Wright, MAGIC, DIAGRAM Consortium, GIANT Consortium, Frank B Hu, Thomas Illig, Linda Kao, James B Meigs, James F Wilson, Kari Stefansson, Cornelia van Duijn, David Altschuler, Andrew D Morris, Michael Boehnke, Mark I McCarthy, Philippe Froguel, Colin N A Palmer, Nicholas J Wareham, Leif Groop, Timothy M Frayling, Stéphane Cauchi
Published 2012-05-01