Results 51 to 60 of about 191,340 (203)

A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1 [PDF]

, 2018
Biliary atresia (BA) is a rare pediatric cholangiopathy characterized by fibrosclerosing obliteration of the extrahepatic bile ducts, leading to cholestasis, fibrosis, cirrhosis, and eventual liver failure.
Bailey-Wilson, Joan E, Chen, Ying, Devoto, Marcella, Gilbert, Melissa A, Grochowski, Christopher M, Hakonarson, Hakon, Llewellyn, Jessica, Loomes, Kathleen M, Mceldrew, Deborah, Russo, Pierre, Spinner, Nancy B, Waisbourd-Zinman, Orith, Wells, Rebecca G   +12 more
core   +2 more sources

Data analysis in the post-genome-wide association study era

Chronic Diseases and Translational Medicine, 2016
Since the first report of a genome-wide association study (GWAS) on human age-related macular degeneration, GWAS has successfully been used to discover genetic variants for a variety of complex human diseases and/or traits, and thousands of associated ...
Qiao-Ling Wang, Wen-Le Tan, Yan-Jie Zhao, Ming-Ming Shao, Jia-Hui Chu, Xu-Dong Huang, Jun Li, Ying-Ying Luo, Lin-Na Peng, Qiong-Hua Cui, Ting Feng, Jie Yang, Ya-Ling Han   +12 more
doaj   +1 more source

An integrative functional genomics framework for effective identification of novel regulatory variants in genome–phenome studies

Genome Medicine, 2018
Background Genome–phenome studies have identified thousands of variants that are statistically associated with disease or traits; however, their functional roles are largely unclear.
Junfei Zhao, Feixiong Cheng, Peilin Jia, Nancy Cox, Joshua C. Denny, Zhongming Zhao   +5 more
doaj   +1 more source

Integrating transcriptome-wide study and mRNA expression profiles yields novel insights into the biological mechanism of chondropathies

Arthritis Research & Therapy, 2019
Background Chondropathies are a group of cartilage diseases, which share some common pathogenetic features. The etiology of chondropathies is still largely obscure now.
Ping Li, Yujie Ning, Xiong Guo, Yan Wen, Bolun Cheng, Mei Ma, Lu Zhang, Shiqiang Cheng, Sen Wang, Feng Zhang   +9 more
doaj   +1 more source

Effect of single nucleotide polymorphisms on intramuscular fat content in Hungarian Simmental cattle [PDF]

Asian-Australasian Journal of Animal Sciences, 2018
Objective To estimate effect of single nucleotide polymorphisms on the intramuscular fat content (IMF) of Hungarian Simmental bulls. Methods Genotypes were determined on high-density Illumina Bovine DNA Chip.
István Anton, Balázs Húth, Imre Füller, László Rózsa, Gabriella Holló, Attila Zsolnai   +5 more
doaj   +1 more source

Genome-wide association study in obsessive-compulsive disorder: results from the OCGAS. [PDF]

, 2015
Obsessive-compulsive disorder (OCD) is a psychiatric condition characterized by intrusive thoughts and urges and repetitive, intentional behaviors that cause significant distress and impair functioning.
Askland, KD, Bienvenu, OJ, Cullen, BA, Fyer, AJ, Geller, DA, Goes, FS, Grados, MA, Greenberg, BD, Knowles, JA, Lange, C, Liang, K-Y, Maher, B, Mattheisen, M, McCracken, JT, McLaughlin, NC, Murphy, DL, Nestadt, G, Nurmi, EL, Pauls, DL, Piacentini, J, Pulver, AE, Qin, H-D, Rasmussen, SA, Riddle, MA, Samuels, JF, Shugart, YY, Stewart, SE, Valle, D, Wang, Y   +28 more
core  

The Role of Family-Based Designs in Genome-Wide Association Studies [PDF]

, 2009
Genome-Wide Association Studies (GWAS) offer an exciting and promising new research avenue for finding genes for complex diseases. Traditional case-control and cohort studies offer many advantages for such designs.
Laird, Nan M., Lange, Christoph
core   +1 more source

Precision Medicine Needs to Think Outside the Box

Frontiers in Genetics, 2022
Precision medicine offers a precious opportunity to change clinical practice and disrupt medicine’s reliance on crude racial, ethnic, or ancestral categories by focusing on an individual’s unique genetic, environmental, and lifestyle characteristics ...
Daphne O. Martschenko, Jennifer L. Young, Jennifer L. Young   +2 more
doaj   +1 more source

Large-scale transcriptome-wide association study identifies new prostate cancer risk regions

Nature Communications, 2018
Genome-wide association studies (GWAS) have identified hundreds of genomic risk regions for prostate cancer. Here, the authors perform a transcriptome wide association study (TWAS) by incorporating prostate cancer GWAS with gene expression data to ...
Nicholas Mancuso, Simon Gayther, Alexander Gusev, Wei Zheng, Kathryn L. Penney, Zsofia Kote-Jarai, Rosalind Eeles, Matthew Freedman, Christopher Haiman, Bogdan Pasaniuc, The PRACTICAL consortium   +10 more
doaj   +1 more source

Accounting for multiple comparisons in a genome-wide association study (GWAS)

BMC Genomics, 2010
Background As we enter an era when testing millions of SNPs in a single gene association study will become the standard, consideration of multiple comparisons is an essential part of determining statistical significance.
Lautenberger James A, Troyer Jennifer L, Nelson George W, Johnson Randall C, Kessing Bailey D, Winkler Cheryl A, O'Brien Stephen J   +6 more
doaj   +1 more source