Optimal sequencing strategies for identifying disease-associated singletons.

by Sara Rashkin, Goo Jun, Sai Chen, Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO), Goncalo R Abecasis
Published 2017-06-01

QPLOT: A Quality Assessment Tool for Next Generation Sequencing Data

by Bingshan Li, Xiaowei Zhan, Mary-Kate Wing, Paul Anderson, Hyun Min Kang, Goncalo R. Abecasis
Published 2013-01-01

A likelihood-based framework for variant calling and de novo mutation detection in families.

by Bingshan Li, Wei Chen, Xiaowei Zhan, Fabio Busonero, Serena Sanna, Carlo Sidore, Francesco Cucca, Hyun M Kang, Gonçalo R Abecasis
Published 2012-01-01

Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study.

by Toshiko Tanaka, Jian Shen, Gonçalo R Abecasis, Aliaksei Kisialiou, Jose M Ordovas, Jack M Guralnik, Andrew Singleton, Stefania Bandinelli, Antonio Cherubini, Donna Arnett, Michael Y Tsai, Luigi Ferrucci
Published 2009-01-01

Nogo Receptor 1 (RTN4R) as a candidate gene for schizophrenia: analysis using human and mouse genetic approaches.

by Ruby Hsu, Abigail Woodroffe, Wen-Sung Lai, Melloni N Cook, Jun Mukai, Jonathan P Dunning, Douglas J Swanson, J Louw Roos, Gonçalo R Abecasis, Maria Karayiorgou, Joseph A Gogos
Published 2007-11-01

LabWAS: Novel findings and study design recommendations from a meta-analysis of clinical labs in two independent biobanks.

by Jeffery A Goldstein, Joshua S Weinstock, Lisa A Bastarache, Daniel B Larach, Lars G Fritsche, Ellen M Schmidt, Chad M Brummett, Sachin Kheterpal, Goncalo R Abecasis, Joshua C Denny, Matthew Zawistowski
Published 2020-11-01

Correction: Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools.

by Jun Ding, Carlo Sidore, Thomas J Butler, Mary Kate Wing, Yong Qian, Osorio Meirelles, Fabio Busonero, Lam C Tsoi, Andrea Maschio, Andrea Angius, Hyun Min Kang, Ramaiah Nagaraja, Francesco Cucca, Gonçalo R Abecasis, David Schlessinger
Published 2015-09-01

Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools.

by Jun Ding, Carlo Sidore, Thomas J Butler, Mary Kate Wing, Yong Qian, Osorio Meirelles, Fabio Busonero, Lam C Tsoi, Andrea Maschio, Andrea Angius, Hyun Min Kang, Ramaiah Nagaraja, Francesco Cucca, Gonçalo R Abecasis, David Schlessinger
Published 2015-07-01

Multiple Loci within the major histocompatibility complex confer risk of psoriasis.

by Bing-Jian Feng, Liang-Dan Sun, Razieh Soltani-Arabshahi, Anne M Bowcock, Rajan P Nair, Philip Stuart, James T Elder, Steven J Schrodi, Ann B Begovich, Gonçalo R Abecasis, Xue-Jun Zhang, Kristina P Callis-Duffin, Gerald G Krueger, David E Goldgar
Published 2009-08-01

Exploring various polygenic risk scores for skin cancer in the phenomes of the Michigan genomics initiative and the UK Biobank with a visual catalog: PRSWeb.

by Lars G Fritsche, Lauren J Beesley, Peter VandeHaar, Robert B Peng, Maxwell Salvatore, Matthew Zawistowski, Sarah A Gagliano Taliun, Sayantan Das, Jonathon LeFaive, Erin O Kaleba, Thomas T Klumpner, Stephanie E Moser, Victoria M Blanc, Chad M Brummett, Sachin Kheterpal, Gonçalo R Abecasis, Stephen B Gruber, Bhramar Mukherjee
Published 2019-06-01

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

by 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
Published 2018-10-01

Association Analysis and Meta-Analysis of Multi-Allelic Variants for Large-Scale Sequence Data

by Yu Jiang, Sai Chen, Xingyan Wang, Mengzhen Liu, William G. Iacono, John K. Hewitt, John E. Hokanson, Kenneth Krauter, Markku Laakso, Kevin W. Li, Sharon M. Lutz, Matthew McGue, Anita Pandit, Gregory J.M. Zajac, Michael Boehnke, Goncalo R. Abecasis, Scott I. Vrieze, Bibo Jiang, Xiaowei Zhan, Dajiang J. Liu
Published 2020-05-01

Heritability of cardiovascular and personality traits in 6,148 Sardinians.

by Giuseppe Pilia, Wei-Min Chen, Angelo Scuteri, Marco Orrú, Giuseppe Albai, Mariano Dei, Sandra Lai, Gianluca Usala, Monica Lai, Paola Loi, Cinzia Mameli, Loredana Vacca, Manila Deiana, Nazario Olla, Marco Masala, Antonio Cao, Samer S Najjar, Antonio Terracciano, Timur Nedorezov, Alexei Sharov, Alan B Zonderman, Gonçalo R Abecasis, Paul Costa, Edward Lakatta, David Schlessinger
Published 2006-08-01

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

by 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
Published 2019-04-01

Proper conditional analysis in the presence of missing data: Application to large scale meta-analysis of tobacco use phenotypes.

by Yu Jiang, Sai Chen, Daniel McGuire, Fang Chen, Mengzhen Liu, William G Iacono, John K Hewitt, John E Hokanson, Kenneth Krauter, Markku Laakso, Kevin W Li, Sharon M Lutz, Matthew McGue, Anita Pandit, Gregory J M Zajac, Michael Boehnke, Goncalo R Abecasis, Scott I Vrieze, Xiaowei Zhan, Bibo Jiang, Dajiang J Liu
Published 2018-07-01

Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits.

by Angelo Scuteri, Serena Sanna, Wei-Min Chen, Manuela Uda, Giuseppe Albai, James Strait, Samer Najjar, Ramaiah Nagaraja, Marco Orrú, Gianluca Usala, Mariano Dei, Sandra Lai, Andrea Maschio, Fabio Busonero, Antonella Mulas, Georg B Ehret, Ashley A Fink, Alan B Weder, Richard S Cooper, Pilar Galan, Aravinda Chakravarti, David Schlessinger, Antonio Cao, Edward Lakatta, Gonçalo R Abecasis
Published 2007-07-01

Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability.

by Serena Sanna, Bingshan Li, Antonella Mulas, Carlo Sidore, Hyun M Kang, Anne U Jackson, Maria Grazia Piras, Gianluca Usala, Giuseppe Maninchedda, Alessandro Sassu, Fabrizio Serra, Maria Antonietta Palmas, William H Wood, Inger Njølstad, Markku Laakso, Kristian Hveem, Jaakko Tuomilehto, Timo A Lakka, Rainer Rauramaa, Michael Boehnke, Francesco Cucca, Manuela Uda, David Schlessinger, Ramaiah Nagaraja, Gonçalo R Abecasis
Published 2011-07-01

Pervasive sharing of genetic effects in autoimmune disease.

by Chris Cotsapas, Benjamin F Voight, Elizabeth Rossin, Kasper Lage, Benjamin M Neale, Chris Wallace, Gonçalo R Abecasis, Jeffrey C Barrett, Timothy Behrens, Judy Cho, Philip L De Jager, James T Elder, Robert R Graham, Peter Gregersen, Lars Klareskog, Katherine A Siminovitch, David A van Heel, Cisca Wijmenga, Jane Worthington, John A Todd, David A Hafler, Stephen S Rich, Mark J Daly, FOCiS Network of Consortia
Published 2011-08-01

MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk

by Ida Surakka, Lars G. Fritsche, Wei Zhou, Joshua Backman, Jack A. Kosmicki, Haocheng Lu, Ben Brumpton, Jonas B. Nielsen, Maiken E. Gabrielsen, Anne Heidi Skogholt, Brooke Wolford, Sarah E. Graham, Y. Eugene Chen, Seunggeun Lee, Hyun Min Kang, Arnulf Langhammer, Siri Forsmo, Bjørn O. Åsvold, Unnur Styrkarsdottir, Hilma Holm, Daniel Gudbjartsson, Kari Stefansson, Aris Baras, Regeneron Genetics Center, Goncalo R. Abecasis, Kristian Hveem, Cristen J. Willer
Published 2020-10-01

Genetic signature to provide robust risk assessment of psoriatic arthritis development in psoriasis patients

by Matthew T. Patrick, Philip E. Stuart, Kalpana Raja, Johann E. Gudjonsson, Trilokraj Tejasvi, Jingjing Yang, Vinod Chandran, Sayantan Das, Kristina Callis-Duffin, Eva Ellinghaus, Charlotta Enerbäck, Tõnu Esko, Andre Franke, Hyun M. Kang, Gerald G. Krueger, Henry W. Lim, Proton Rahman, Cheryl F. Rosen, Stephan Weidinger, Michael Weichenthal, Xiaoquan Wen, John J. Voorhees, Gonçalo R. Abecasis, Dafna D. Gladman, Rajan P. Nair, James T. Elder, Lam C. Tsoi
Published 2018-10-01