Zobrazeno 1 - 10
of 100
pro vyhledávání: '"Steven Gazal"'
Autor:
Miriam Stricker, Weijiao Zhang, Wei-Yi Cheng, Steven Gazal, Calliope Dendrou, Satu Nahkuri, Pier Francesco Palamara
Publikováno v:
Cell Genomics, Vol 4, Iss 1, Pp 100469- (2024)
Summary: Epigenetics underpins the regulation of genes known to play a key role in the adaptive and innate immune system (AIIS). We developed a method, EpiNN, that leverages epigenetic data to detect AIIS-relevant genomic regions and used it to detec
Externí odkaz:
https://doaj.org/article/efff3fe08a6442b7950b5ba751f1f419
Autor:
Xinzhu Wei, Christopher R Robles, Ali Pazokitoroudi, Andrea Ganna, Alexander Gusev, Arun Durvasula, Steven Gazal, Po-Ru Loh, David Reich, Sriram Sankararaman
Publikováno v:
eLife, Vol 12 (2023)
The genetic variants introduced into the ancestors of modern humans from interbreeding with Neanderthals have been suggested to contribute an unexpected extent to complex human traits. However, testing this hypothesis has been challenging due to the
Externí odkaz:
https://doaj.org/article/d9bc395d35c846718dd9f8c95194e3f7
Autor:
Carla Márquez-Luna, Steven Gazal, Po-Ru Loh, Samuel S. Kim, Nicholas Furlotte, Adam Auton, andMe Research Team, Alkes L. Price
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-11 (2021)
Incorporating functional information has shown promise for improving polygenic risk prediction of complex traits. Here, the authors describe polygenic prediction method LDpred-funct, and demonstrate its utility across 21 heritable traits in the UK Bi
Externí odkaz:
https://doaj.org/article/1fe277995f5c48348ca78c76a233c4a2
Autor:
Huwenbo Shi, Steven Gazal, Masahiro Kanai, Evan M. Koch, Armin P. Schoech, Katherine M. Siewert, Samuel S. Kim, Yang Luo, Tiffany Amariuta, Hailiang Huang, Yukinori Okada, Soumya Raychaudhuri, Shamil R. Sunyaev, Alkes L. Price
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Trans-ethnic genetic correlation is significantly less than 1 for many diseases. Here, the authors stratify this correlation by genomic annotations, finding that loci whose causal disease effect sizes differ between ethnicities are likely impacted by
Externí odkaz:
https://doaj.org/article/2dfa2cb15c014c84868e29d583709f8c
Autor:
Samuel S. Kim, Kushal K. Dey, Omer Weissbrod, Carla Márquez-Luna, Steven Gazal, Alkes L. Price
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
Pathogenicity scores are instrumental in prioritizing variants for Mendelian disease, yet their application to common disease is largely unexplored. Here, the authors assess the utility of pathogenicity scores for 41 complex traits and develop a fram
Externí odkaz:
https://doaj.org/article/a9c384dedfce4fe695bcccca771f0514
Autor:
Farhad Hormozdiari, Bryce van de Geijn, Joseph Nasser, Omer Weissbrod, Steven Gazal, Chelsea J. -T. Ju, Luke O’ Connor, Margaux L. A. Hujoel, Jesse Engreitz, Fereydoun Hormozdiari, Alkes L. Price
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-8 (2019)
Transposable elements (TE) make up a large component of the human genome and have been shown to contribute to human diseases. Here, Hormozdiari et al. estimate the contribution of TEs to the heritability of 41 complex traits and diseases and find enr
Externí odkaz:
https://doaj.org/article/2162e007b86c49c889aa730a2d6a4779
Autor:
Armin P. Schoech, Daniel M. Jordan, Po-Ru Loh, Steven Gazal, Luke J. O’Connor, Daniel J. Balick, Pier F. Palamara, Hilary K. Finucane, Shamil R. Sunyaev, Alkes L. Price
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
Negative selection removes deleterious genetic variation, and can influence genetic architectures and evolution of complex traits. Here, the authors analyze data from 25 UK Biobank diseases and complex traits, and quantify frequency-dependent genetic
Externí odkaz:
https://doaj.org/article/feb2ef5b1d054956892103cae50e6b53
Autor:
Steven Gazal, Jose R. Espinoza, Frédéric Austerlitz, Dominique Marchant, Jose Luis Macarlupu, Jorge Rodriguez, Hugo Ju-Preciado, Maria Rivera-Chira, Olivier Hermine, Fabiola Leon-Velarde, Francisco C. Villafuerte, Jean-Paul Richalet, Laurent Gouya
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
Chronic mountain sickness (CMS) is a pathological condition resulting from chronic exposure to high-altitude hypoxia. While its prevalence is high in native Andeans (>10%), little is known about the genetic architecture of this disease. Here, we perf
Externí odkaz:
https://doaj.org/article/715735868d464ed4aba6246372b5863d
Autor:
Raphael Borie, Bruno Crestani, Philippe Dieude, Hilario Nunes, Yannick Allanore, Caroline Kannengiesser, Paolo Airo, Marco Matucci-Cerinic, Benoit Wallaert, Dominique Israel-Biet, Jacques Cadranel, Vincent Cottin, Steven Gazal, Anna L Peljto, John Varga, David A Schwartz, Dominique Valeyre, Bernard Grandchamp
Publikováno v:
PLoS ONE, Vol 8, Iss 8, p e70621 (2013)
A polymorphism on the MUC5B promoter (rs35705950) has been associated with idiopathic pulmonary fibrosis (IPF) but not with systemic sclerosis (SSc) with interstitial lung disease (ILD). We genotyped the MUC5B promoter in the first 142 patients of th
Externí odkaz:
https://doaj.org/article/e4f3f0a63d2a4ce1aad9e5e92605ab27
Autor:
Karthik A. Jagadeesh, Kushal K. Dey, Daniel T. Montoro, Rahul Mohan, Steven Gazal, Jesse M. Engreitz, Ramnik J. Xavier, Alkes L. Price, Aviv Regev
Publikováno v:
Nature Genetics. 54:1479-1492