Results 81 to 90 of about 283,327 (339)

GWAS on family history of Alzheimer’s disease

bioRxiv, 2018
Alzheimer’s disease (AD) is a public health priority for the 21st century. Risk reduction currently revolves around lifestyle changes with much research trying to elucidate the biological underpinnings.
R. Marioni, S. Harris, Qian Zhang, A. McRae, S. Hagenaars, S. Hagenaars, W. Hill, G. Davies, C. Ritchie, C. Gale, C. Gale, J. Starr, A. Goate, D. Porteous, Jian Yang, K. Evans, I. Deary, N. Wray, P. Visscher, P. Visscher   +19 more
semanticscholar   +1 more source

Integrating Single‐Cell Transcriptome‐Wide Mendelian Randomization and Differentially Expressed Gene Analyses to Prioritize Dynamic Immune‐Related Drug Targets for Cancers

Advanced Science, EarlyView.
Inspired by evidence triangulation, a new sensitivity method called MR‐DEG is developed, which uses the differentially expressed gene (DEG) results as additional evidence to minimize pleiotropic effects and strengthen Mendelian randomization (MR) causal estimates. Using dynamic single‐cell expression quantitative trait loci (eQTLs) as an example, it is
Jie Zheng, Qian Yang, Haoyu Liu, Huiling Zhao, Shuangyuan Wang, Yi Liu, Xueyan Wu, Yilan Ding, Hui Ying, Youqiu Ye, Xi Huang, Lei Ye, Ruizhi Zheng, Hong Lin, Mian Li, Tiange Wang, Zhiyun Zhao, Min Xu, Yi Duan, Hao Guo, Zhongshang Yuan, Philip Haycock, George Davey Smith, Richard M Martin, Guang Ning, Fang Hu, Weiqing Wang, Tom R. Gaunt, Jieli Lu, Yufang Bi   +29 more
wiley   +1 more source

Allele-specific NKX2-5 binding underlies multiple genetic associations with human electrocardiographic traits. [PDF]

, 2019
The cardiac transcription factor (TF) gene NKX2-5 has been associated with electrocardiographic (EKG) traits through genome-wide association studies (GWASs), but the extent to which differential binding of NKX2-5 at common regulatory variants contributes
Benaglio, Paola, D'Antonio, Matteo, D'Antonio-Chronowska, Agnieszka, DeBoever, Christopher, Donovan, Margaret KR, Drees, Frauke, Frazer, Kelly A, Gaulton, Kyle J, Li, He, Ma, Wubin, Matsui, Hiroko, Rosenfeld, Michael G, Singhal, Sanghamitra, Smith, Erin N, Sotoodehnia, Nona, van Setten, Jessica, Yang, Feng, Young Greenwald, William W   +17 more
core  

Multi-omics integration reveals molecular networks and regulators of psoriasis. [PDF]

, 2019
BackgroundPsoriasis is a complex multi-factorial disease, involving both genetic susceptibilities and environmental triggers. Genome-wide association studies (GWAS) and epigenome-wide association studies (EWAS) have been carried out to identify genetic ...
Arneson, Douglas, Jhamb, Deepali, Rajpal, Deepak K, Shu, Le, Yang, Xia, Zhao, Yuqi   +5 more
core   +3 more sources

Genome-wide association studies (GWAS) vs functional validation: the challenge of the post-GWAS era [PDF]

, 2023
Susana Balcells, Núria Martínez‐Gil, Juan David Patiño-Salazar, Raquel Rabionet, Daniel Grinberg   +4 more
openalex   +1 more source

Leveraging polygenic functional enrichment to improve GWAS power

bioRxiv, 2017
Functional genomics data has the potential to increase GWAS power by identifying SNPs that have a higher prior probability of association. Here, we introduce a method that leverages polygenic functional enrichment to incorporate coding, conserved ...
Gleb Kichaev, G. Bhatia, Po-Ru Loh, S. Gazal, Kathryn S. Burch, M. Freund, A. Schoech, B. Pasaniuc, A. Price   +8 more
semanticscholar   +1 more source

Diagnosis, Prognosis, and Drug Target Discovery for Chronic Widespread Pain: A Large Proteogenomic Study

Advanced Science, EarlyView.
Plasma proteomics is leveraged to decode the biological underpinnings of chronic widespread pain. A nested machine learning framework integrates proteomic signatures, prospective outcomes, and Mendelian randomization to uncover 18 causal proteins.
Li Chen, Eoin Kelleher, Ruogu Meng, Duanke Liu, Yuchen Guo, Yunhe Wang, Yaqing Gao, Zhe Huang, Zhu Liang, Shuai Yuan, Chao Zeng, Jun Ma, Yanhui Dong, Anushka Irani, Guanghua Lei, Junqing Xie, Daniel Prieto‐Alhambra   +16 more
wiley   +1 more source

A Drosophila screen identifies NKCC1 as a modifier of NGLY1 deficiency

eLife, 2020
N-Glycanase 1 (NGLY1) is a cytoplasmic deglycosylating enzyme. Loss-of-function mutations in the NGLY1 gene cause NGLY1 deficiency, which is characterized by developmental delay, seizures, and a lack of sweat and tears.
Dana M Talsness, Katie G Owings, Emily Coelho, Gaelle Mercenne, John M Pleinis, Raghavendran Partha, Kevin A Hope, Aamir R Zuberi, Nathan L Clark, Cathleen M Lutz, Aylin R Rodan, Clement Y Chow   +11 more
doaj   +1 more source

Evidence for the role of EPHX2 gene variants in anorexia nervosa. [PDF]

, 2013
Anorexia nervosa (AN) and related eating disorders are complex, multifactorial neuropsychiatric conditions with likely rare and common genetic and environmental determinants.
Bansal, V, Berenson, G, Bergen, AW, Berrettini, W, Bloss, CS, Brandt, H, Bulik, CM, Carson, A, Chen, W, Crawford, S, Crow, S, Darst, BF, Duvvuri, V, Fichter, MM, Galvez, L, Halmi, KA, Johnson, C, Kaplan, AS, Kaye, W, Keel, P, Klump, KL, La Via, M, Levy, S, Libiger, O, Lilenfeld, L, Magistretti, P, Mitchell, JE, Murray, S, Pham, P, Phillips, T, Plotnicov, K, Rotondo, A, Schork, NJ, Scott-Van Zeeland, AA, Shih, PB, Smith, EN, Srinivasan, S, Strober, M, Tewhey, R, Tisch, R, Topol, EJ, Torkamani, A, Treasure, J, Villarasa, N, Wineinger, N, Woodside, DB, Zhang, G   +46 more
core   +1 more source

GWAS of three molecular traits highlights core genes and pathways alongside a highly polygenic background

bioRxiv, 2020
Genome-wide association studies (GWAS) have been used to study the genetic basis of a wide variety of complex diseases and other traits. We describe UK Biobank GWAS results for three molecular traits—urate, IGF-1, and testosterone—with better-understood ...
Nasa Sinnott-Armstrong, S. Naqvi, M. Rivas, J. Pritchard   +3 more
semanticscholar   +1 more source