Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma.

Autor: Yosuke Tanigawa, Michael Wainberg, Juha Karjalainen, Tuomo Kiiskinen, Guhan Venkataraman, Susanna Lemmelä, Joni A Turunen, Robert R Graham, Aki S Havulinna, Markus Perola, Aarno Palotie, FinnGen, Mark J Daly, Manuel A Rivas

Publikováno v: PLoS Genetics, Vol 16, Iss 5, p e1008682 (2020)

Protein-altering variants that are protective against human disease provide in vivo validation of therapeutic targets. Here we use genotyping data from UK Biobank (n = 337,151 unrelated White British individuals) and FinnGen (n = 176,899) to conduct

Externí odkaz: https://doaj.org/article/7663e0ba736a40158eb2aa84f9f14816

Bayesian mixture model for clustering rare-variant effects in human genetic studies

Autor: Manuel A. Rivas, Yosuke Tanigawa, Guhan Venkataraman, Matti Pirinen

Rare-variant aggregate analysis from exome and whole genome sequencing data typically summarizes with a single statistic the signal for a gene or the unit that is being aggregated. However, when doing so, the effect profile within the unit may not be

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::20bac3feb98f1464922538995adfab54
https://doi.org/10.1101/2021.08.03.454967

Sequencing of over 100,000 individuals identifies multiple genes and rare variants associated with Crohns disease susceptibility

Autor: Schuum P, Daniel B. Graham, Sun D, Seksik P, David T. Okou, Daniel L. Rice, David J. Cutler, Martti Färkkilä, Liefferinckx C, Segal Aw, Andrew T. Chan, Denis Franchimont, Beecham A, Subra Kugathasan, Stacey Gabriel, Stefan Schreiber, Baras A, Kirschner Bs, Goerg S, Juozas Kupcinskas, Jukka Koskela, John C. Mansfield, Kyle Gettler, Devoto M, Dobes A, Debby Laukens, Richard H. Duerr, Myriam Mni, Loescher B, Cosnes J, Mengesha E, William A. Faubion, Joshua Lewis, Graham A. Heap, Voskuil, Christine Stevens, Pekow J, Lisa W. Datta, Adam P. Levine, Khalili H, O’Charoen S, Dan Turner, Nikolas Pontikos, Natalie J. Prescott, Inga Peter, Marc P. Hoeppner, Chung D, Mark S. Silverberg, Dodge S, Talin Haritunians, Moayyedi P, Winter Hs, John D. Rioux, Andre Franke, Holm H. Uhlig, Ferreira M, Matthew Solomonson, Sokol H, Damas Om, Ramnik J. Xavier, Horowitz Je, Iyer, Eija Hämäläinen, Avila B, Dawany N, Newberry R, Bernstein C, Shawky R, Benjamin Glaser, Alison Simmons, Mamta Giri, Bruce E. Sands, Ann E. Pulver, Yuan K, Abreu Mt, Gil Atzmon, Allez M, Young J, Verstockt S, Aarno Palotie, Hongyan Huang, Kimmo Kontula, Ellinghaus E, van der Meulen Ae, Ahmad T, Oldenburg B, Cyriel Y. Ponsioen, Daly A, Dermot P.B. McGovern, Jeffrey C. Barrett, Peter M. Irving, Miles Parkes, Jacob L. McCauley, Päivi Saavalainen, Pierik Mj, Alain Bitton, Guhan Venkataraman, Rinse K. Weersma, Schiff Er, Manuel A. Rivas, Harry Ostrer, Bokemeyer B, Judy H. Cho, Sandra May, Michel Georges, Isabelle Cleynen, Moran Cj, Laudes M, Beaugerie L, Laura Fachal, Nir Barzilai, Mikko Hiltunen, Somineni H, Stephan R. Targan, Skeiceviciene J, Kelsen J, Sartor Br, Christopher A. Lamb, Philippe Goyette, Steven R. Brant, Souad Rahmouni, Mark J. Daly, Sheikh Sz, Edouard Louis, Jalas C, Carl A. Anderson, Severine Vermeire, Aleksejs Sazonovs

Genome-wide association studies (GWAS) have identified hundreds of loci associated with Crohns disease (CD), however, as with all complex diseases, deriving pathogenic mechanisms from these non-coding GWAS discoveries has been challenging. To complem

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1cb230603fc89c4e9c9583e329f9ebeb
https://doi.org/10.1101/2021.06.15.21258641

Genetics of 35 blood and urine biomarkers in the UK Biobank

Autor: Manuel A. Rivas, Hanna Ollila, FinnGen, Mark J. Daly, Aki S. Havulinna, Vineeta Agarwala, Guhan Venkataraman, Anna Shcherbina, Samuli Ripatti, Robert Tibshirani, Matthew Aguirre, Michael Wainberg, Trevor Hastie, Yosuke Tanigawa, Christian Benner, Tuomo Kiiskinen, Junyang Qian, Themistocles L. Assimes, Nina Mars, Jonathan K. Pritchard, Nasa Sinnott-Armstrong, James P. Pirruccello, Fatima Rodriguez, David Amar

Publikováno v: Nature genetics

Clinical laboratory tests are a critical component of the continuum of care. We evaluate the genetic basis of 35 blood and urine laboratory measurements in the UK Biobank (n = 363,228 individuals). We identify 1,857 loci associated with at least one

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81ec93633743c782abfd72e2331b5645
https://pubmed.ncbi.nlm.nih.gov/34608296

Cardiac imaging of aortic valve area from 26,142 UK Biobank participants reveal novel genetic associations and shared genetic comorbidity with multiple disease phenotypes

Autor: Paroma Varma, Manuel A. Rivas, James R. Priest, Ke Xiao, Yosuke Tanigawa, Heliodoro Tejeda, Jason A. Fries, Madalina Fiterau, Christopher Ré, Euan A. Ashley, Bernard Keavney, Vincent S. Chen, Guhan Venkataraman, Catherine Tcheandjieu, Aldo Córdova-Palomera, Heather J. Cordell

The aortic valve is an important determinant of cardiovascular physiology and anatomic location of common human diseases. From a sample of 26,142 European-ancestry participants, we estimated functional aortic valve area by planimetry from prospective

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40c0cb5955798de48ab0ecc936258bf4