Population-scale study of eRNA transcription reveals bipartite functional enhancer architecture

por Katla Kristjánsdóttir, Alexis Dziubek, Hyun Min Kang, Hojoong Kwak
Publicado 2020

Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans

por Jedidiah Carlson, Adam E. Locke, Matthew Flickinger, Matthew Zawistowski, Shawn Levy, Richard M. Myers, Michael Boehnke, Hyun Min Kang, Laura J. Scott, Jun Z. Li, Sebastian Zöllner, The BRIDGES Consortium
Publicado 2018

Hydro-Seq enables contamination-free high-throughput single-cell RNA-sequencing for circulating tumor cells

por Yu-Heng Cheng, Yu-Chih Chen, Eric Lin, Riley Brien, Seungwon Jung, Yu-Ting Chen, Woncheol Lee, Zhijian Hao, Saswat Sahoo, Hyun Min Kang, Jason Cong, Monika Burness, Sunitha Nagrath, Max S. Wicha, Euisik Yoon
Publicado 2019

Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects

por Allison A. Regier, Yossi Farjoun, David E. Larson, Olga Krasheninina, Hyun Min Kang, Daniel P. Howrigan, Bo-Juen Chen, Manisha Kher, Eric Banks, Darren C. Ames, Adam C. English, Heng Li, Jinchuan Xing, Yeting Zhang, Tara Matise, Goncalo R. Abecasis, Will Salerno, Michael C. Zody, Benjamin M. Neale, Ira M. Hall
Publicado 2018

Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis

por Sarah E. Graham, Jonas B. Nielsen, Matthew Zawistowski, Wei Zhou, Lars G. Fritsche, Maiken E. Gabrielsen, Anne Heidi Skogholt, Ida Surakka, Whitney E. Hornsby, Damian Fermin, Daniel B. Larach, Sachin Kheterpal, Chad M. Brummett, Seunggeun Lee, Hyun Min Kang, Goncalo R. Abecasis, Solfrid Romundstad, Stein Hallan, Matthew G. Sampson, Kristian Hveem, Cristen J. Willer
Publicado 2019

Identification of novel and rare variants associated with handgrip strength using whole genome sequence data from the NHLBI Trans-Omics in Precision Medicine (TOPMed) Program.

por Chloé Sarnowski, Han Chen, Mary L Biggs, Sylvia Wassertheil-Smoller, Jan Bressler, Marguerite R Irvin, Kathleen A Ryan, David Karasik, Donna K Arnett, L Adrienne Cupples, David W Fardo, Stephanie M Gogarten, Benjamin D Heavner, Deepti Jain, Hyun Min Kang, Charles Kooperberg, Arch G Mainous, Braxton D Mitchell, Alanna C Morrison, Jeffrey R O'Connell, Bruce M Psaty, Kenneth Rice, Albert V Smith, Ramachandran S Vasan, B Gwen Windham, Douglas P Kiel, Joanne M Murabito, Kathryn L Lunetta, TOPMed Longevity and Healthy Aging Working Group, from the NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium
Publicado 2021

Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve

por Bo Yang, Wei Zhou, Jiao Jiao, Jonas B. Nielsen, Michael R. Mathis, Mahyar Heydarpour, Guillaume Lettre, Lasse Folkersen, Siddharth Prakash, Claudia Schurmann, Lars Fritsche, Gregory A. Farnum, Maoxuan Lin, Mohammad Othman, Whitney Hornsby, Anisa Driscoll, Alexandra Levasseur, Marc Thomas, Linda Farhat, Marie-Pierre Dubé, Eric M. Isselbacher, Anders Franco-Cereceda, Dong-chuan Guo, Erwin P. Bottinger, G. Michael Deeb, Anna Booher, Sachin Kheterpal, Y. Eugene Chen, Hyun Min Kang, Jacob Kitzman, Heather J. Cordell, Bernard D. Keavney, Judith A. Goodship, Santhi K. Ganesh, Gonçalo Abecasis, Kim A. Eagle, Alan P. Boyle, Ruth J. F. Loos, Per Eriksson, Jean-Claude Tardif, Chad M. Brummett, Dianna M. Milewicz, Simon C. Body, Cristen J. Willer
Publicado 2017

The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits.

por Benjamin F Voight, Hyun Min Kang, Jun Ding, Cameron D Palmer, Carlo Sidore, Peter S Chines, Noël P Burtt, Christian Fuchsberger, Yanming Li, Jeanette Erdmann, Timothy M Frayling, Iris M Heid, Anne U Jackson, Toby Johnson, Tuomas O Kilpeläinen, Cecilia M Lindgren, Andrew P Morris, Inga Prokopenko, Joshua C Randall, Richa Saxena, Nicole Soranzo, Elizabeth K Speliotes, Tanya M Teslovich, Eleanor Wheeler, Jared Maguire, Melissa Parkin, Simon Potter, N William Rayner, Neil Robertson, Kathleen Stirrups, Wendy Winckler, Serena Sanna, Antonella Mulas, Ramaiah Nagaraja, Francesco Cucca, Inês Barroso, Panos Deloukas, Ruth J F Loos, Sekar Kathiresan, Patricia B Munroe, Christopher Newton-Cheh, Arne Pfeufer, Nilesh J Samani, Heribert Schunkert, Joel N Hirschhorn, David Altshuler, Mark I McCarthy, Gonçalo R Abecasis, Michael Boehnke
Publicado 2012

Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease

por Jonas B. Nielsen, Oren Rom, Ida Surakka, Sarah E. Graham, Wei Zhou, Tanmoy Roychowdhury, Lars G. Fritsche, Sarah A. Gagliano Taliun, Carlo Sidore, Yuhao Liu, Maiken E. Gabrielsen, Anne Heidi Skogholt, Brooke Wolford, William Overton, Ying Zhao, Jin Chen, He Zhang, Whitney E. Hornsby, Akua Acheampong, Austen Grooms, Amanda Schaefer, Gregory J. M. Zajac, Luis Villacorta, Jifeng Zhang, Ben Brumpton, Mari Løset, Vivek Rai, Pia R. Lundegaard, Morten S. Olesen, Kent D. Taylor, Nicholette D. Palmer, Yii-Der Chen, Seung H. Choi, Steven A. Lubitz, Patrick T. Ellinor, Kathleen C. Barnes, Michelle Daya, Nicholas Rafaels, Scott T. Weiss, Jessica Lasky-Su, Russell P. Tracy, Ramachandran S. Vasan, L. Adrienne Cupples, Rasika A. Mathias, Lisa R. Yanek, Lewis C. Becker, Patricia A. Peyser, Lawrence F. Bielak, Jennifer A. Smith, Stella Aslibekyan, Bertha A. Hidalgo, Donna K. Arnett, Marguerite R. Irvin, James G. Wilson, Solomon K. Musani, Adolfo Correa, Stephen S. Rich, Xiuqing Guo, Jerome I. Rotter, Barbara A. Konkle, Jill M. Johnsen, Allison E. Ashley-Koch, Marilyn J. Telen, Vivien A. Sheehan, John Blangero, Joanne E. Curran, Juan M. Peralta, Courtney Montgomery, Wayne H-H Sheu, Ren-Hua Chung, Karen Schwander, Seyed M. Nouraie, Victor R. Gordeuk, Yingze Zhang, Charles Kooperberg, Alexander P. Reiner, Rebecca D. Jackson, Eugene R. Bleecker, Deborah A. Meyers, Xingnan Li, Sayantan Das, Ketian Yu, Jonathon LeFaive, Albert Smith, Tom Blackwell, Daniel Taliun, Sebastian Zollner, Lukas Forer, Sebastian Schoenherr, Christian Fuchsberger, Anita Pandit, Matthew Zawistowski, Sachin Kheterpal, Chad M. Brummett, Pradeep Natarajan, David Schlessinger, Seunggeun Lee, Hyun Min Kang, Francesco Cucca, Oddgeir L. Holmen, Bjørn O. Åsvold, Michael Boehnke, Sekar Kathiresan, Goncalo R. Abecasis, Y. Eugene Chen, Cristen J. Willer, Kristian Hveem
Publicado 2020

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

por Julia K. Goodrich, Moriel Singer-Berk, Rachel Son, Abigail Sveden, Jordan Wood, Eleina England, Joanne B. Cole, Ben Weisburd, Nick Watts, Lizz Caulkins, Peter Dornbos, Ryan Koesterer, Zachary Zappala, Haichen Zhang, Kristin A. Maloney, Andy Dahl, Carlos A. Aguilar-Salinas, Gil Atzmon, Francisco Barajas-Olmos, Nir Barzilai, John Blangero, Eric Boerwinkle, Lori L. Bonnycastle, Erwin Bottinger, Donald W. Bowden, Federico Centeno-Cruz, John C. Chambers, Nathalie Chami, Edmund Chan, Juliana Chan, Ching-Yu Cheng, Yoon Shin Cho, Cecilia Contreras-Cubas, Emilio Córdova, Adolfo Correa, Ralph A. DeFronzo, Ravindranath Duggirala, Josée Dupuis, Ma Eugenia Garay-Sevilla, Humberto García-Ortiz, Christian Gieger, Benjamin Glaser, Clicerio González-Villalpando, Ma Elena Gonzalez, Niels Grarup, Leif Groop, Myron Gross, Christopher Haiman, Sohee Han, Craig L. Hanis, Torben Hansen, Nancy L. Heard-Costa, Brian E. Henderson, Juan Manuel Malacara Hernandez, Mi Yeong Hwang, Sergio Islas-Andrade, Marit E. Jørgensen, Hyun Min Kang, Bong-Jo Kim, Young Jin Kim, Heikki A. Koistinen, Jaspal Singh Kooner, Johanna Kuusisto, Soo-Heon Kwak, Markku Laakso, Leslie Lange, Jong-Young Lee, Juyoung Lee, Donna M. Lehman, Allan Linneberg, Jianjun Liu, Ruth J. F. Loos, Valeriya Lyssenko, Ronald C. W. Ma, Angélica Martínez-Hernández, James B. Meigs, Thomas Meitinger, Elvia Mendoza-Caamal, Karen L. Mohlke, Andrew D. Morris, Alanna C. Morrison, Maggie C. Y. Ng, Peter M. Nilsson, Christopher J. O’Donnell, Lorena Orozco, Colin N. A. Palmer, Kyong Soo Park, Wendy S. Post, Oluf Pedersen, Michael Preuss, Bruce M. Psaty, Alexander P. Reiner, Cristina Revilla-Monsalve, Stephen S. Rich, Jerome I. Rotter, Danish Saleheen, Claudia Schurmann, Xueling Sim, Rob Sladek, Kerrin S. Small, Wing Yee So, Timothy D. Spector, Konstantin Strauch, Tim M. Strom, E. Shyong Tai, Claudia H. T. Tam, Yik Ying Teo, Farook Thameem, Brian Tomlinson, Russell P. Tracy, Tiinamaija Tuomi, Jaakko Tuomilehto, Teresa Tusié-Luna, Rob M. van Dam, Ramachandran S. Vasan, James G. Wilson, Daniel R. Witte, Tien-Yin Wong, AMP-T2D-GENES Consortia, Noël P. Burtt, Noah Zaitlen, Mark I. McCarthy, Michael Boehnke, Toni I. Pollin, Jason Flannick, Josep M. Mercader, Anne O’Donnell-Luria, Samantha Baxter, Jose C. Florez, Daniel G. MacArthur, Miriam S. Udler
Publicado 2021