Zobrazeno 1 - 10
of 652
pro vyhledávání: '"David N. Cooper"'
Autor:
Robert Chen, Áine Duffy, Ben O. Petrazzini, Ha My Vy, David Stein, Matthew Mort, Joshua K. Park, Avner Schlessinger, Yuval Itan, David N. Cooper, Daniel M. Jordan, Ghislain Rocheleau, Ron Do
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-16 (2024)
Abstract Identifying genetic drivers of chronic diseases is necessary for drug discovery. Here, we develop a machine learning-assisted genetic priority score, which we call ML-GPS, that incorporates genetic associations with predicted disease phenoty
Externí odkaz:
https://doaj.org/article/5bd40264f5a7435f88889b5300fc4ec7
Autor:
Min‐Jun Wang, Yuan‐Chen Wang, Emmanuelle Masson, Ya‐Hui Wang, Dong Yu, Yang‐Yang Qian, Xin‐Ying Tang, Shun‐Jiang Deng, Liang‐Hao Hu, Lei Wang, Li‐Juan Wang, Vinciane Rebours, David N. Cooper, Claude Férec, Zhao‐Shen Li, Jian‐Min Chen, Wen‐Bin Zou, Zhuan Liao
Publikováno v:
Advanced Science, Vol 11, Iss 38, Pp n/a-n/a (2024)
Abstract Chronic pancreatitis (CP) is a complex disease with genetic and environmental factors at play. Through trio exome sequencing, a de novo SEC16A frameshift variant in a Chinese teenage CP patient is identified. Subsequent targeted next‐gener
Externí odkaz:
https://doaj.org/article/c5f4c65631754818979730d06240b965
Autor:
Meltem Ece Kars, Yiming Wu, Peter D. Stenson, David N. Cooper, Johan Burisch, Inga Peter, Yuval Itan
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-18 (2024)
Abstract Background Inflammatory bowel disease (IBD) and Parkinson’s disease (PD) are chronic disorders that have been suggested to share common pathophysiological processes. LRRK2 has been implicated as playing a role in both diseases. Exploring t
Externí odkaz:
https://doaj.org/article/c9653c345a6f4ec69516ce57a1d9b01c
Autor:
Jiang Hu, Zhuo Wang, Zongyi Sun, Benxia Hu, Adeola Oluwakemi Ayoola, Fan Liang, Jingjing Li, José R. Sandoval, David N. Cooper, Kai Ye, Jue Ruan, Chuan-Le Xiao, Depeng Wang, Dong-Dong Wu, Sheng Wang
Publikováno v:
Genome Biology, Vol 25, Iss 1, Pp 1-19 (2024)
Abstract Long-read sequencing data, particularly those derived from the Oxford Nanopore sequencing platform, tend to exhibit high error rates. Here, we present NextDenovo, an efficient error correction and assembly tool for noisy long reads, which ac
Externí odkaz:
https://doaj.org/article/4730db7d79204aef83f6b00801455db6
Autor:
Dan He, Ling Li, Huasong Zhang, Feiyi Liu, Shaoying Li, Xuehao Xiu, Cong Fan, Mengling Qi, Meng Meng, Junping Ye, Matthew Mort, Peter D. Stenson, David N. Cooper, Huiying Zhao
Publikováno v:
EBioMedicine, Vol 107, Iss , Pp 105286- (2024)
Summary: Background: Genome-wide association studies (GWAS) have revealed many brain disorder-associated SNPs residing in the noncoding genome, rendering it a challenge to decipher the underlying pathogenic mechanisms. Methods: Here, we present an un
Externí odkaz:
https://doaj.org/article/c80859e47fe94f0fa13b4b27518e8340
Autor:
Mónica Lopes-Marques, Matthew Mort, João Carneiro, António Azevedo, Andreia P. Amaro, David N. Cooper, Luísa Azevedo
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-10 (2024)
Abstract Background De novo mutations (DNMs) are variants that occur anew in the offspring of noncarrier parents. They are not inherited from either parent but rather result from endogenous mutational processes involving errors of DNA repair/replicat
Externí odkaz:
https://doaj.org/article/654c1ec191e44022bddddac9d9bfd17f
Autor:
David Stein, Meltem Ece Kars, Yiming Wu, Çiğdem Sevim Bayrak, Peter D. Stenson, David N. Cooper, Avner Schlessinger, Yuval Itan
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-19 (2023)
Abstract Gain-of-function (GOF) variants give rise to increased/novel protein functions whereas loss-of-function (LOF) variants lead to diminished protein function. Experimental approaches for identifying GOF and LOF are generally slow and costly, wh
Externí odkaz:
https://doaj.org/article/e13ec2e645a64a879f6a689a901c55ea
Autor:
Yuepeng Hu, Guofu Zhang, Qi Yang, Na Pu, Kaiwei Li, Baiqiang Li, David N. Cooper, Zhihui Tong, Weiqin Li, Jian-Min Chen
Publikováno v:
Lipids in Health and Disease, Vol 22, Iss 1, Pp 1-9 (2023)
Abstract Background Lipoprotein lipase (LPL) is the key enzyme responsible for the hydrolysis of triglycerides. Loss-of-function variants in the LPL gene are associated with hypertriglyceridemia (HTG) and HTG-related diseases. Unlike nonsense, frames
Externí odkaz:
https://doaj.org/article/92e5f75a086949e7a4a051b0ff16602f
Autor:
Guofu Zhang, Yuepeng Hu, Qi Yang, Na Pu, Gang Li, Jingzhu Zhang, Zhihui Tong, Emmanuelle Masson, David N. Cooper, Jian-Min Chen, Weiqin Li
Publikováno v:
Lipids in Health and Disease, Vol 22, Iss 1, Pp 1-18 (2023)
Abstract Background Lipoprotein lipase (LPL) is the rate-limiting enzyme for triglyceride hydrolysis. Homozygous or compound heterozygous LPL variants cause autosomal recessive familial chylomicronemia syndrome (FCS), whereas simple heterozygous LPL
Externí odkaz:
https://doaj.org/article/6e0b2acecd7045c7b7befd71c176c5b1
Autor:
Yiming Wu, Kyle Gettler, Meltem Ece Kars, Mamta Giri, Dalin Li, Cigdem Sevim Bayrak, Peng Zhang, Aayushee Jain, Patrick Maffucci, Ksenija Sabic, Tielman Van Vleck, Girish Nadkarni, Lee A. Denson, Harry Ostrer, Adam P. Levine, Elena R. Schiff, Anthony W. Segal, Subra Kugathasan, Peter D. Stenson, David N. Cooper, L. Philip Schumm, Scott Snapper, Mark J. Daly, Talin Haritunians, Richard H. Duerr, Mark S. Silverberg, John D. Rioux, Steven R. Brant, Dermot P. B. McGovern, Judy H. Cho, Yuval Itan
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-12 (2023)
Abstract Inflammatory bowel disease (IBD) is a group of chronic digestive tract inflammatory conditions whose genetic etiology is still poorly understood. The incidence of IBD is particularly high among Ashkenazi Jews. Here, we identify 8 novel and p
Externí odkaz:
https://doaj.org/article/9b4ce2bc11f1400dba2682d34318447c