Zobrazeno 1 - 10
of 83
pro vyhledávání: '"GTEx Consortium"'
Predicting molecular mechanisms of hereditary diseases by using their tissue‐selective manifestation
Autor:
Eyal Simonovsky, Moran Sharon, Maya Ziv, Omry Mauer, Idan Hekselman, Juman Jubran, Ekaterina Vinogradov, Chanan M Argov, Omer Basha, Lior Kerber, Yuval Yogev, Ayellet V Segrè, Hae Kyung Im, GTEx Consortium, Ohad Birk, Lior Rokach, Esti Yeger‐Lotem
Publikováno v:
Molecular Systems Biology, Vol 19, Iss 8, Pp n/a-n/a (2023)
Abstract How do aberrations in widely expressed genes lead to tissue‐selective hereditary diseases? Previous attempts to answer this question were limited to testing a few candidate mechanisms. To answer this question at a larger scale, we develope
Externí odkaz:
https://doaj.org/article/2f83bd8335064584b8465fdd36d265bc
Autor:
Lindsay F. Rizzardi, Peter F. Hickey, Adrian Idrizi, Rakel Tryggvadóttir, Colin M. Callahan, Kimberly E. Stephens, Sean D. Taverna, Hao Zhang, Sinan Ramazanoglu, GTEx Consortium, Kasper D. Hansen, Andrew P. Feinberg
Publikováno v:
Genome Biology, Vol 22, Iss 1, Pp 1-26 (2021)
Abstract Background DNA methylation dynamics in the brain are associated with normal development and neuropsychiatric disease and differ across functionally distinct brain regions. Previous studies of genome-wide methylation differences among human b
Externí odkaz:
https://doaj.org/article/fff90ca74fe2430eb0baacf7ea4ca109
Autor:
Alvaro N. Barbeira, Rodrigo Bonazzola, Eric R. Gamazon, Yanyu Liang, YoSon Park, Sarah Kim-Hellmuth, Gao Wang, Zhuoxun Jiang, Dan Zhou, Farhad Hormozdiari, Boxiang Liu, Abhiram Rao, Andrew R. Hamel, Milton D. Pividori, François Aguet, GTEx GWAS Working Group, Lisa Bastarache, Daniel M. Jordan, Marie Verbanck, Ron Do, GTEx Consortium, Matthew Stephens, Kristin Ardlie, Mark McCarthy, Stephen B. Montgomery, Ayellet V. Segrè, Christopher D. Brown, Tuuli Lappalainen, Xiaoquan Wen, Hae Kyung Im
Publikováno v:
Genome Biology, Vol 22, Iss 1, Pp 1-24 (2021)
Abstract The resources generated by the GTEx consortium offer unprecedented opportunities to advance our understanding of the biology of human diseases. Here, we present an in-depth examination of the phenotypic consequences of transcriptome regulati
Externí odkaz:
https://doaj.org/article/84ae6dd57bee4833929e3d4586a1d87a
Autor:
Yuan He, Surya B. Chhetri, Marios Arvanitis, Kaushik Srinivasan, François Aguet, Kristin G. Ardlie, Alvaro N. Barbeira, Rodrigo Bonazzola, Hae Kyung Im, GTEx Consortium, Christopher D. Brown, Alexis Battle
Publikováno v:
Genome Biology, Vol 21, Iss 1, Pp 1-25 (2020)
Abstract Genetic regulation of gene expression, revealed by expression quantitative trait loci (eQTLs), exhibits complex patterns of tissue-specific effects. Characterization of these patterns may allow us to better understand mechanisms of gene regu
Externí odkaz:
https://doaj.org/article/4732b96b2dc2477bb07ba28215a5d6f7
Autor:
Stephane E. Castel, François Aguet, Pejman Mohammadi, GTEx Consortium, Kristin G. Ardlie, Tuuli Lappalainen
Publikováno v:
Genome Biology, Vol 21, Iss 1, Pp 1-12 (2020)
Abstract Allele expression (AE) analysis robustly measures cis-regulatory effects. Here, we present and demonstrate the utility of a vast AE resource generated from the GTEx v8 release, containing 15,253 samples spanning 54 human tissues for a total
Externí odkaz:
https://doaj.org/article/604e50bd6d6343f99b6d33dfa10fc459
Autor:
Nicole R. Gay, Michael Gloudemans, Margaret L. Antonio, Nathan S. Abell, Brunilda Balliu, YoSon Park, Alicia R. Martin, Shaila Musharoff, Abhiram S. Rao, François Aguet, Alvaro N. Barbeira, Rodrigo Bonazzola, Farhad Hormozdiari, GTEx Consortium, Kristin G. Ardlie, Christopher D. Brown, Hae Kyung Im, Tuuli Lappalainen, Xiaoquan Wen, Stephen B. Montgomery
Publikováno v:
Genome Biology, Vol 21, Iss 1, Pp 1-20 (2020)
Abstract Background Population structure among study subjects may confound genetic association studies, and lack of proper correction can lead to spurious findings. The Genotype-Tissue Expression (GTEx) project largely contains individuals of Europea
Externí odkaz:
https://doaj.org/article/a928ae41cf5c414a91f85bbcd4b040a8
Autor:
Alvaro N. Barbeira, Scott P. Dickinson, Rodrigo Bonazzola, Jiamao Zheng, Heather E. Wheeler, Jason M. Torres, Eric S. Torstenson, Kaanan P. Shah, Tzintzuni Garcia, Todd L. Edwards, Eli A. Stahl, Laura M. Huckins, GTEx Consortium, Dan L. Nicolae, Nancy J. Cox, Hae Kyung Im
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-20 (2018)
Phenotypic variation and diseases are influenced by factors such as genetic variants and gene expression. Here, Barbeira et al. develop S-PrediXcan to compute PrediXcan results using summary data, and investigate the effects of gene expression variat
Externí odkaz:
https://doaj.org/article/74f1758878ad410698934b8de48e83e1
Autor:
Heather E Wheeler, Kaanan P Shah, Jonathon Brenner, Tzintzuni Garcia, Keston Aquino-Michaels, GTEx Consortium, Nancy J Cox, Dan L Nicolae, Hae Kyung Im
Publikováno v:
PLoS Genetics, Vol 12, Iss 11, p e1006423 (2016)
Understanding the genetic architecture of gene expression traits is key to elucidating the underlying mechanisms of complex traits. Here, for the first time, we perform a systematic survey of the heritability and the distribution of effect sizes acro
Externí odkaz:
https://doaj.org/article/ce2c5a4a51da475dbdc271bd21549451
Autor:
Emma Pierson, GTEx Consortium, Daphne Koller, Alexis Battle, Sara Mostafavi, Kristin G Ardlie, Gad Getz, Fred A Wright, Manolis Kellis, Simona Volpi, Emmanouil T Dermitzakis
Publikováno v:
PLoS Computational Biology, Vol 11, Iss 5, p e1004220 (2015)
To understand the regulation of tissue-specific gene expression, the GTEx Consortium generated RNA-seq expression data for more than thirty distinct human tissues. This data provides an opportunity for deriving shared and tissue specific gene regulat
Externí odkaz:
https://doaj.org/article/d9f850b622af472bac1daa6c76feab87
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