G
Gonçalo R. Abecasis
Researcher at University of Michigan
Publications - 629
Citations - 271012
Gonçalo R. Abecasis is an academic researcher from University of Michigan. The author has contributed to research in topics: Genome-wide association study & Population. The author has an hindex of 179, co-authored 595 publications receiving 230323 citations. Previous affiliations of Gonçalo R. Abecasis include Johns Hopkins University School of Medicine & Wellcome Trust Centre for Human Genetics.
Papers
More filters
Posted ContentDOI
A Sardinian founder mutation in GP1BB that impacts thrombocytopenia
Fabio Busonero,Maristella Steri,Valeria Orrù,Gabriella Sole,Stefania Olla,Michele Marongiu,Carlo Sidore,Sandra Lai,Antonella Mulas,Andrea Maschio,Magdalena Zoledziewska,Matteo Floris,Mauro Pala,Paola Forabosco,Isadora Asunis,Maristella Pitzalis,Francesca Deidda,Marco Masala,Cristian Antonio Caria,Susanna Barella,Gonçalo R. Abecasis,David Schlessinger,Serena Sanna,Edoardo Fiorillo,Francesco Cucca +24 more
TL;DR: A novel rare missense mutation in the GP1BB protein that is associated with PLT reduction is found, predicting that in homozygosity as well as in individuals carrying specific compound heterozygous configurations, this variant likely causes BSS.
Posted ContentDOI
Joint testing of rare variant burden scores using non-negative least squares
Andrey Ziyatdinov,Joelle Mbatchou,Anthony Marcketta,Joshua D. Backman,Sheila M. Gaynor,Yuxin Zou,Tyler A. Joseph,Benjamin Geraghty,Joseph Herman,Kyoko Watanabe,Arkopravo Ghosh,Jack A. Kosmicki,Adam E. Locke,Timothy W Thornton,Hyun Min Kang,Manuel A. R. Ferreira,Aris Baras,Gonçalo R. Abecasis,Jonathan Marchini +18 more
TL;DR: The sparse burden association test (SBAT) as discussed by the authors was proposed to test the joint set of gene-based burden scores under the assumption that causal burden scores act in the same effect direction, and simultaneously assesses the significance of the model fit and selects the set of burden scores that best explain the association at the same time.
Posted ContentDOI
A deep catalog of protein-coding variation in 985,830 individuals
Kathie Sun,Xiaodong Bai,Siying Chen,Suying Bao,Manav Kapoor,Joshua D. Backman,Tyler A. Joseph,Evan Maxwell,George Mitra,Adam Mansfield,Boris Boutkov,Sujit Gokhale,Lukas Habegger,Anthony Marcketta,Adam E. Locke,Michael Kessler,Deepika Sharma,Jeffrey Staples,Jonas Bovijn,Sahar Gelfman,Alessandro Di Gioia,Veera M. Rajagopal,Alexander Lopez,Jesus Alegre,Jaime Berumen,Roberto Tapia-Conyer,Pablo Kuri-Morales,J. Torres,Jonathan Emberson,Rory Collins,Michael Cantor,Timothy W Thornton,Hyun Min Kang,John D. Overton,Alan R. Shuldiner,M. Laura Cremona,Mona Nafde,Aris Baras,Gonçalo R. Abecasis,Jonathan Marchini,Jeffrey G. Reid,William J Salerno,Suganthi Balasubramanian +42 more
TL;DR: The RGC-ME dataset as mentioned in this paper is the largest dataset of human protein-coding variation to date, derived from exome sequencing of 985,830 individuals of diverse ancestry to serve as a rich resource for studying rare coding variants.
Patent
Diagnosis and treatment of macular degeneration
TL;DR: In particular, the biomarkers and related compositions and methods of the present invention find use in diagnostic, therapeutic, research, and drug screening applications as discussed by the authors. But they are not suitable for macular degeneration.
Genetics of Latin American Diversity (GLAD) Project: insights into population genetics and association studies in recently admixed groups in the Americas
Victor Borda,Douglas Loesch,Bing Guo,Roland Laboulaye,Diego Véliz-Otani,Jennifer N. French-Kwawu,Thiago P. Leal,Stephanie M. Gogarten,Sunday Ikpe,Mateus H. Gouveia,Marla Mendes,Gonçalo R. Abecasis,Isabela Alvim,Carlos E. Arboleda-Bustos,Gonzalo Arboleda,Humberto Arboleda,Mauricio Lima Barreto,Lucas Barwick,Marcos A. Bezzera,John Blangero,Vanderci Borges,Omar Cáceres,Jianwen Cai,Pedro Chana-Cuevas,Zhanghua Chen,Brian Custer,Michael Dean,Carla Luana Dinardo,Igor de Farias Domingos,Ravindranath Duggirala,Elena Dieguez,Willian Ortiz Fernández,Henrique Ballalai Ferraz,Frank D. Gilliland,Heinner Guio,Bernardo Bernardo Horta,Joanne E. Curran,Jill M. Johnsen,Robert C. Kaplan,Shannon Jeanne Kelly,Eimear E. Kenny,Barbara A. Konkle,Charles Kooperberg,Andres G. Lescano,M. Fernanda Lima-Costa,Ruth J. F. Loos,Ani Manichaikul,Deborah A. Meyers,Michel S Naslavsky,Deborah A. Nickerson,Kari E. North,Carlos Padilla,Michael Preuss,Víctor Raggio,Alexander P. Reiner,Stephen S. Rich,Carlos Rm Rieder,Michiel Rienstra,Jerome I. Rotter,Tatjana Rundek,Ralph L. Sacco,Cesar Sanchez,Vijay G. Sankaran,Bruno Lopes Santos-Lobato,Artur F. Schumacher-Schuh,Marilia O. Scliar,Edwin K. Silverman,Tamar Sofer,Jessica Lasky-Su,Vitor Tumas,Scott T. Weiss,Ignacio F. Mata,Ryan D. Hernandez,Eduardo Tarazona-Santos,Timothy D. O’Connor +74 more
TL;DR: The Genetics of Latin American Diversity (GLAD) project as mentioned in this paper is a platform that compiles genome-wide information of 54,077 Latin Americans from 39 studies representing 45 geographical regions.