Results 91 to 100 of about 345,542 (371)

Identification and validation of novel risk genes for intervertebral disc disorder by integrating large-scale multi-omics analyses and experimental studies

Frontiers in Medicine
IntroductionAlthough genome-wide association studies (GWAS) have identified multiple genetic loci linked to intervertebral disc disorder (IDD), their functional characterization remains largely unelucidated.
Zhe Zhang, Zhe Zhang, Yu Chen, Qianjin Wang, Zheng Li, Bingyang Dai, Bingyang Dai, Cheng Dong, Cheng Dong, Zhengya Zhu   +9 more
doaj   +1 more source

Pleiotropy-guided transcriptome imputation from normal and tumor tissues identifies candidate susceptibility genes for breast and ovarian cancer

HGG Advances, 2021
Summary: Familial, sequencing, and genome-wide association studies (GWASs) and genetic correlation analyses have progressively unraveled the shared or pleiotropic germline genetics of breast and ovarian cancer.
Siddhartha P. Kar, Daniel P.C. Considine, Jonathan P. Tyrer, Jasmine T. Plummer, Stephanie Chen, Felipe S. Dezem, Alvaro N. Barbeira, Padma S. Rajagopal, Will T. Rosenow, Fernando Moreno, Clara Bodelon, Jenny Chang-Claude, Georgia Chenevix-Trench, Anna deFazio, Thilo Dörk, Arif B. Ekici, Ailith Ewing, George Fountzilas, Ellen L. Goode, Mikael Hartman, Florian Heitz, Peter Hillemanns, Estrid Høgdall, Claus K. Høgdall, Tomasz Huzarski, Allan Jensen, Beth Y. Karlan, Elza Khusnutdinova, Lambertus A. Kiemeney, Susanne K. Kjaer, Rüdiger Klapdor, Martin Köbel, Jingmei Li, Clemens Liebrich, Taymaa May, Håkan Olsson, Jennifer B. Permuth, Paolo Peterlongo, Paolo Radice, Susan J. Ramus, Marjorie J. Riggan, Harvey A. Risch, Emmanouil Saloustros, Jacques Simard, Lukasz M. Szafron, Linda Titus, Cheryl L. Thompson, Robert A. Vierkant, Stacey J. Winham, Wei Zheng, Jennifer A. Doherty, Andrew Berchuck, Kate Lawrenson, Hae Kyung Im, Ani W. Manichaikul, Paul D.P. Pharoah, Simon A. Gayther, Joellen M. Schildkraut   +57 more
doaj   +1 more source

Transcriptome-Wide Association Study Reveals New Molecular Interactions Associated with Melanoma Pathogenesis. [PDF]

Cancers (Basel)
A transcriptome-wide association study (TWAS) was conducted on genome-wide association study (GWAS) summary statistics of malignant melanoma of skin (UK Biobank dataset) and The Cancer Genome Atlas-Skin Cutaneous Melanoma (TCGA-SKCM) gene expression weights to identify melanoma susceptibility genes.
Saad MN, Hamed M.
europepmc   +3 more sources

Integrated systems analysis reveals a molecular network underlying autism spectrum disorders. [PDF]

, 2014
Autism is a complex disease whose etiology remains elusive. We integrated previously and newly generated data and developed a systems framework involving the interactome, gene expression and genome sequencing to identify a protein interaction module with
Euskirchen, Ghia, Hallmayer, Joachim, Li, Jingjing, Ma, Zhihai, Shi, Minyi, Snyder, Michael, Urban, Alexander, Zhao, Shuchun, Ziskin, Jennifer   +8 more
core   +1 more source

Probabilistic fine-mapping of transcriptome-wide association studies [PDF]

, 2017
AbstractTranscriptome-wide association studies (TWAS) using predicted expression have identified thousands of genes whose locally-regulated expression is associated to complex traits and diseases. In this work, we show that linkage disequilibrium (LD) among SNPs induce significant gene-trait associations at non-causal genes as a function of the overlap
Mancuso, Nicholas, Kichaev, Gleb, Shi, Huwenbo, Freund, Malika, Gusev, Alexander, Pasaniuc, Bogdan   +5 more
openaire   +1 more source

Identification of asthma-related genes using asthmatic blood eQTLs of Korean patients

BMC Medical Genomics, 2023
Background More than 200 asthma-associated genetic variants have been identified in genome-wide association studies (GWASs). Expression quantitative trait loci (eQTL) data resources can help identify causal genes of the GWAS signals, but it can be ...
Dong Jun Kim, Ji Eun Lim, Hae-Un Jung, Ju Yeon Chung, Eun Ju Baek, Hyein Jung, Shin Young Kwon, Han Kyul Kim, Ji-One Kang, Kyungtaek Park, Sungho Won, Tae-Bum Kim, Bermseok Oh   +12 more
doaj   +1 more source

Transcriptome-wide association study reveals increased neuronal FLT3 expression is associated with Tourette’s syndrome

Communications Biology, 2022
Tourette’s Syndrome (TS) is a neurodevelopmental disorder that is characterized by motor and phonic tics. A recent TS genome-wide association study (GWAS) identified a genome-wide significant locus.
C. Liao, Veikko Vuokila, H. Catoire, F. Akçimen, J. Ross, Cynthia V. Bourassa, P. Dion, I. Meijer, G. Rouleau   +8 more
semanticscholar   +1 more source

Transcriptome‐wide association study reveals candidate causal genes for lung cancer [PDF]

International Journal of Cancer, 2019
We have recently completed the largest GWAS on lung cancer including 29,266 cases and 56,450 controls of European descent. The goal of our study has been to integrate the complete GWAS results with a large‐scale expression quantitative trait loci (eQTL) mapping study in human lung tissues (n = 1,038) to identify candidate causal genes for lung cancer ...
Yohan Bossé, Zhonglin Li, Jun Xia, Venkata Manem, Robert Carreras‐Torres, Aurélie Gabriel, Nathalie Gaudreault, Demetrius Albanes, Melinda C. Aldrich, Angeline Andrew, Susanne Arnold, Heike Bickeböller, Stig E. Bojesen, Paul Brennan, Hans Brunnstrom, Neil Caporaso, Chu Chen, David C. Christiani, John K. Field, Gary Goodman, Kjell Grankvist, Richard Houlston, Mattias Johansson, Mikael Johansson, Lambertus A. Kiemeney, Stephen Lam, Maria T. Landi, Philip Lazarus, Loic Le Marchand, Geoffrey Liu, Olle Melander, Gadi Rennert, Angela Risch, Susan M. Rosenberg, Matthew B. Schabath, Sanjay Shete, Zhuoyi Song, Victoria L. Stevens, Adonina Tardon, H‐Erich Wichmann, Penella Woll, Shan Zienolddiny, Ma'en Obeidat, Wim Timens, Rayjean J. Hung, Philippe Joubert, Christopher I. Amos, James D. McKay   +47 more
openaire   +10 more sources

Prediction of Alzheimer’s Disease-Associated Genes by Integration of GWAS Summary Data and Expression Data

Frontiers in Genetics, 2019
Alzheimer’s disease (AD) is the most common cause of dementia. It is the fifth leading cause of death among elderly people. With high genetic heritability (79%), finding the disease’s causal genes is a crucial step in finding a treatment for AD ...
Sicheng Hao, Rui Wang, Yu Zhang, Hui Zhan   +3 more
doaj   +1 more source

A splicing transcriptome-wide association study identifies novel altered splicing for Alzheimer's disease susceptibility

Neurobiology of Disease, 2023
Alzheimer's disease (AD) is a common neurodegenerative disease in aging individuals. Alternative splicing is reported to be relevant to AD development while their roles in etiology of AD remain largely elusive.
Yanfa Sun, Ye Eun Bae, Jingjing Zhu, Zichen Zhang, Hua Zhong, Jie Yu, Chong Wu, Lang Wu   +7 more
doaj   +1 more source