Exome sequencing and complex disease: practical aspects of rare variant association studies

by Do, Ron, Kathiresan, Sekar, Abecasis, Gonçalo R.
Published 2012

QPLOT: A Quality Assessment Tool for Next Generation Sequencing Data

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

RAREMETAL: fast and powerful meta-analysis for rare variants

by Feng, Shuang, Liu, Dajiang, Zhan, Xiaowei, Wing, Mary Kate, Abecasis, Gonçalo R.
Published 2014

RVTESTS: an efficient and comprehensive tool for rare variant association analysis using sequence data

by Zhan, Xiaowei, Hu, Youna, Li, Bingshan, Abecasis, Goncalo R., Liu, Dajiang J.
Published 2016

A Likelihood-Based Framework for Variant Calling and De Novo Mutation Detection in Families

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

A Single SNP Surrogate for Genotyping HLA-C*06:02 in Diverse Populations

by Stuart, Philip E., Tejasvi, Trilokraj, Shaiq, Pakeeza A., Kullavanijaya, Preya, Qamar, Raheel, Raja, Ghazala K., Li, Yanming, Voorhees, John J., Abecasis, Goncalo R., Elder, James T., Nair, Rajan P.
Published 2014

Comparing variant calling algorithms for target-exon sequencing in a large sample

by Lo, Yancy, Kang, Hyun M, Nelson, Matthew R, Othman, Mohammad I, Chissoe, Stephanie L, Ehm, Margaret G, Abecasis, Gonçalo R, Zöllner, Sebastian
Published 2015

Nogo Receptor 1 (RTN4R) as a Candidate Gene for Schizophrenia: Analysis Using Human and Mouse Genetic Approaches

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

Transcriptome analysis of psoriasis in a large case-control sample: RNA-seq provides insights into disease mechanisms

by Li, Bingshan, Tsoi, Lam C., Swindell, William R., Gudjonsson, Johann E., Tejasvi, Trilokraj, Johnston, Andrew, Ding, Jun, Stuart, Philip E., Xing, Xianying, Kochkodan, James J., Voorhees, John J., Kang, Hyun M., Nair, Rajan P., Abecasis, Goncalo R., Elder, James T.
Published 2014

Reference-based phasing using the Haplotype Reference Consortium panel

by Loh, Po-Ru, Danecek, Petr, Palamara, Pier Francesco, Fuchsberger, Christian, Reshef, Yakir A, Finucane, Hilary K, Schoenherr, Sebastian, Forer, Lukas, McCarthy, Shane, Abecasis, Goncalo R, Durbin, Richard, Price, Alkes L
Published 2016

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

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

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

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

Fine Mapping of Five Loci Associated with Low-Density Lipoprotein Cholesterol Detects Variants That Double the Explained Heritability

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

Pervasive Sharing of Genetic Effects in Autoimmune Disease

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

Heritability of Cardiovascular and Personality Traits in 6,148 Sardinians

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

Genome-Wide Association Scan Shows Genetic Variants in the FTO Gene Are Associated with Obesity-Related Traits

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

Meta-Analysis of Gene Level Tests for Rare Variant Association

by Liu, Dajiang J., Peloso, Gina M., Zhan, Xiaowei, Holmen, Oddgeir L., Zawistowski, Matthew, Feng, Shuang, Nikpay, Majid, Auer, Paul L., Goel, Anuj, Zhang, He, Peters, Ulrike, Farrall, Martin, Orho-Melander, Marju, Kooperberg, Charles, McPherson, Ruth, Watkins, Hugh, Willer, Cristen J., Hveem, Kristian, Melander, Olle, Kathiresan, Sekar, Abecasis, Gonçalo R.
Published 2013

GENOME-WIDE ASSOCIATION ANALYSES BASED ON WHOLE-GENOME SEQUENCING IN SARDINIA PROVIDE INSIGHTS INTO REGULATION OF HEMOGLOBIN LEVELS

by Danjou, Fabrice, Zoledziewska, Magdalena, Sidore, Carlo, Steri, Maristella, Busonero, Fabio, Maschio, Andrea, Mulas, Antonella, Perseu, Lucia, Barella, Susanna, Porcu, Eleonora, Pistis, Giorgio, Pitzalis, Maristella, Pala, Mauro, Menzel, Stephan, Metrustry, Sarah, Spector, Timothy D., Leoni, Lidia, Angius, Andrea, Uda, Manuela, Moi, Paolo, Thein, Swee Lay, Galanello, Renzo, Abecasis, Gonçalo R., Schlessinger, David, Sanna, Serena, Cucca, Francesco
Published 2015

Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk

by Holmen, Oddgeir L., Zhang, He, Fan, Yanbo, Hovelson, Daniel H., Schmidt, Ellen M., Zhou, Wei, Guo, Yanhong, Zhang, Ji, Langhammer, Arnulf, Løchen, Maja-Lisa, Ganesh, Santhi K., Vatten, Lars, Skorpen, Frank, Dalen, Håvard, Zhang, Jifeng, Pennathur, Subramaniam, Chen, Jin, Platou, Carl, Mathiesen, Ellisiv B., Wilsgaard, Tom, Njølstad, Inger, Boehnke, Michael, Chen, Y. Eugene, Abecasis, Gonçalo R., Hveem, Kristian, Willer, Cristen J.
Published 2014

Analysis of long non-coding RNAs highlights tissue-specific expression patterns and epigenetic profiles in normal and psoriatic skin

by Tsoi, Lam C, Iyer, Matthew K, Stuart, Philip E, Swindell, William R, Gudjonsson, Johann E, Tejasvi, Trilokraj, Sarkar, Mrinal K, Li, Bingshan, Ding, Jun, Voorhees, John J, Kang, Hyun M, Nair, Rajan P, Chinnaiyan, Arul M, Abecasis, Goncalo R, Elder, James T
Published 2015