Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Jonah Einson"'
Publikováno v:
PLoS ONE, Vol 19, Iss 3, p e0291960 (2024)
Common variants affecting mRNA splicing are typically identified though splicing quantitative trait locus (sQTL) mapping and have been shown to be enriched for GWAS signals by a similar degree to eQTLs. However, the specific splicing changes induced
Externí odkaz:
https://doaj.org/article/51437c99f0694ea7872b3322d087633a
Common variants affecting mRNA splicing are typically identified though splicing quantitative trait locus (sQTL) mapping and have been shown to be enriched for GWAS signals by a similar degree to eQTLs. However, the specific splicing changes induced
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4d18b8f64c7e60b38a99baac8ceef99b
https://doi.org/10.1101/2022.12.05.518915
https://doi.org/10.1101/2022.12.05.518915
Autor:
Jose R. Cortes, Ioan Filip, Robert Albero, Juan A. Patiño-Galindo, S. Aidan Quinn, Wen-Hsuan W. Lin, Anouchka P. Laurent, Bobby B. Shih, Jessie A. Brown, Anisha J. Cooke, Adam Mackey, Jonah Einson, Sakellarios Zairis, Alfredo Rivas-Delgado, Maria Antonella Laginestra, Stefano Pileri, Elias Campo, Govind Bhagat, Adolfo A. Ferrando, Raul Rabadan, Teresa Palomero
Publikováno v:
Cell Reports. 39:110695
Peripheral T cell lymphoma not otherwise specified (PTCL-NOS) comprises heterogeneous lymphoid malignancies characterized by pleomorphic lymphocytes and variable inflammatory cell-rich tumor microenvironment. Genetic drivers in PTCL-NOS include genom
Autor:
Deborah C. Mash, Kevin S. Smith, Lappalainen T, Jeffrey A. Thomas, Rajinder Kaul, Paul Flicek, Maghboeba Mosavel, Yuxin Zou, Barbara E. Stranger, Brandon L. Pierce, Yanyu Liang, Andrew R. Hamel, Lihua Jiang, Marcus Hunter, Jimmie B. Vaught, Hae Kyung Im, John M. Rouhana, François Aguet, Ferran Reverter, Jason Bridge, Farzana Jasmine, Scott D. Jewell, William F. Leinweber, Gad Getz, Jonah Einson, Kevin Myer, SE Castel, Barbara E. Engelhardt, Stephen B. Montgomery, Brunilda Balliu, Gary Walters, Helen M. Moore, Daniel Nachun, Zerbino, Lori E. Brigham, Gao Wang, Farhad Hormozdiari, Pejman Mohammadi, Kasper D. Hansen, Nicole A. Teran, Fred A. Wright, Bryan Gillard, Sarah Kim-Hellmuth, CC Powell, Susan E. Koester, Wucher, Aaron Graubert, Duyen T. Nguyen, Shin Lin, Mike Moser, John A. Stamatoyannopoulos, Liqun Qi, Princy Parsana, Peter Hickey, Latarsha J. Carithers, Saboor Shad, Eric R. Gamazon, Jennifer A. Doherty, Stephen J. Trevanion, Kane Hadley, Kate R. Rosenbloom, Anita H. Undale, Robert E. Handsaker, Debra Bradbury, Shankara Anand, Meng Wang, David E. Tabor, Karna Robinson, S. Gabriel, Esti Yeger-Lotem, Kimberly Ramsey, Mary Barcus, Daniel G. MacArthur, Yuan He, Nancy Roche, Alvaro N. Barbeira, Ayellet V. Segrè, Dan Sheppard, Souvik Das, AR Little, Nathan S. Abell, Xiaoquan Wen, Elise D. Flynn, Nicole M. Ferraro, Hua Tang, Jared L. Nedzel, Jessica Wheeler, Abhi Rao, Meier, Thomas Juettemann, Sandra Linder, Bruce A. Roe, Daniel J. Cotter, David A. Davis, Christopher Johns, Lin Chen, Seva Kashin, Muhammad G. Kibriya, Ana Viñuela, Ellen Todres, Ashis Saha, Matthew Stephens, Chiara Sabatti, Manolis Kellis, Laura A. Siminoff, Phillip Branton, Xiao Li, Michael Snyder, Kathryn Demanelis, Gen Li, Barbara A. Foster, Leslie H. Sobin, Simona Volpi, Magali Ruffier, Christopher D. Brown, Ping Guan, Benjamin J. Strober, Alexis Battle, Michael J. Gloudemans, Silva Kasela, Manuel Muñoz-Aguirre, Ellen Karasik, OM deGoede, Roderic Guigó, Michael Washington, Alisa McDonald, Andrew A. Brown, Meritxell Oliva, Kieron Taylor, Nancy J. Cox, Daniel C. Rohrer, Paul J. Hoffman, Gene Kopen, Qin Li, Andrew D Skol, Rodrigo Bonazzola, Tiffany Eulalio, Mark H. Johnson, Laure Fresard, Lindsay F. Rizzardi, Abhiram Rao, T Krubit, W. J. Kent, Alan Kwong, Anna M. Smith, Pedro G. Ferreira, HM Gardiner, Andrew P. Feinberg, Rick Hasz, Lei Hou, Marta Melé, Andrew B. Nobel, Katherine H. Huang, Laura Barker, Maximilian Haeussler, Kristin G. Ardlie, Concepcion R. Nierras, Christopher Lee, Joshua M. Akey, Eskin E, Jeffrey McLean, Donald F. Conrad, Jin Billy Li, YoSon Park, Serghei Mangul, Emmanouil T. Dermitzakis, Brian Jo, D Garrido-Martin
The Genotype-Tissue Expression (GTEx) project dissects how genetic variation affects gene expression and splicing. Some human genetic variants affect the amount of RNA produced and the splicing of gene transcripts, crucial steps in development and ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::750f7e68291b1839a3351deae498ad1b
http://hdl.handle.net/2445/195117
http://hdl.handle.net/2445/195117
Autor:
Nancy J. Cox, Sayantan Das, Abhi Rao, Pejman Mohammadi, Alan Kwong, Brandon L. Pierce, Yanyu Liang, Yuxin Zou, Anna M. Smith, Matthew Stephens, Chiara Sabatti, Yuan He, Kasper D. Hansen, Lei Hou, Meritxell Oliva, W. James Kent, Stacey Gabriel, Andrew R. Hame, Tanya Krubit, Gary Walters, Lori E. Brigham, Gao Wang, Kevin S. Smith, Michael J. Gloudemans, Barbara E. Engelhardt, Yongjin Park, Nicole A. Teran, David A. Davis, Thomas Juettemann, Kimberley Ramsey, Fred A. Wright, Lin Chen, Valentin Wucher, Benjamin J. Strober, Duyen T. Nguyen, Eleazar Eskin, Kane Hadley, Deborah C. Mash, Michael Snyder, Sarah Kim-Hellmuth, Laura A. Siminoff, Maghboeba Mosavel, Shin Lin, Richard Hasz, Daniel C. Rohrer, Latarsha J. Carithers, Kevin Myer, Rajinder Kaul, Andrew D. Skol, Bryan Gillard, Dana R. Valley, Philip A. Branton, Stephane E. Castel, Robert E. Handsaker, Debra Bradbury, Meng Wang, Mary Barcus, Xiaoquan Wen, Hua Tang, Daniel J. Cotter, Lihua Jiang, Jason Bridge, Ashis Saha, Gen Li, Susan E. Koester, Qin Li, Mark H. Johnson, Barbara E. Stranger, Jimmie B. Vaught, Hae Kyung Im, Paul Flicek, Marcus Hunter, François Aguet, Elise D. Flynn, Sandra Linder, Nancy Roche, Daniel R. Zerbino, Xiao Li, Barbara A. Foster, Stephen B. Montgomery, Daniel Nachun, Serghei Mangul, Emmanouil T. Dermitzakis, Brian Jo, Simona Volpi, Farzana Jasmine, Scott D. Jewell, Jonah Einson, Tuuli Lappalainen, Farhad Hormozdiari, John M. Rouhana, Ana Viñuela, Daniel G. MacArthur, William F. Leinweber, Gad Getz, Peter Hickey, Eric R. Gamazon, Brunilda Balliu, Jennifer A. Doherty, Christopher D. Brown, Roderic Guigó, Gene Kopen, Rodrigo Bonazzola, Pedro G. Ferreira, Andrew P. Feinberg, Shankara Anand, Helen M. Moore, Paul J. Hoffman, Heather M. Gardiner, Ping Guan, Ferran Reverter, Jin Billy Li, Tiffany Eulalio, Joseph Wheeler, Alvaro N. Barbeira, Jared L. Nedzel, Seva Kashin, Laure Fresard, Lindsay F. Rizzardi, Abhiram Rao, Muhammad G. Kibriya, David Tabor, Leslie H. Sobin, A. Roger Little, Stephen J. Trevanion, Nicole M. Ferraro, Kate R. Rosenbloom, John A. Stamatoyannopoulos, Liqun Qi, Princy Parsana, Ayellet V. Segrè, Dan Sheppard, Nathan S. Abell, Kathryn Demanelis, Manolis Kellis, Silva Kasela, Xin Li, Conner C. Powell, YoSon Park, Michael Washington, Magali Ruffier, Saboor Shad, Christopher Johns, Jeffrey A. Thomas, Andrew Brown, Alisa McDonald, Karna Robinson, Esti Yeger-Lotem, Manuel Muñoz-Aguirre, Kieron Taylor, Marta Melé, Diego Garrido-Martín, Brian Roe, Michael T. Moser, Andrew B. Nobel, Alexis Battle, Maximilian Haeussler, Concepcion R. Nierras, Ellen Karasik, Sam Meier, Anita H. Undale, Ellen Todres, Aaron Graubert, Joshua M. Akey, Jeffrey McLean, Donald F. Conrad, Olivia M. De Goede, Katherine H. Huang, Laura Barker, Kristin G. Ardlie, Christopher Lee
Publikováno v:
Genome Biology, Vol 21, Iss 1, Pp 1-12 (2020)
Genome Biology
Genome Biology
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 of 431 mi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90fddfebf856337cc6189fbe1de49662
http://hdl.handle.net/10230/45398
http://hdl.handle.net/10230/45398
Autor:
Christopher D. Brown, Austin T. Hilliard, Adolfo Correa, Nicole M. Ferraro, Maja Bucan, Alvaro N. Barbeira, Kristin G. Ardlie, Stephane E. Castel, Shweta Ramdas, Michael C. Bassik, Margot Brandt, Joe R. Davis, Stephen B. Montgomery, Nathan S. Abell, Jonah Einson, Tuuli Lappalainen, Alexis Battle, François Aguet, Alexandra J. Scott, Gaelen T. Hess, Ira M. Hall, Hae Kyung Im, Pejman Mohammadi, Themistocles L. Assimes, Aradhana, Gina M. Peloso, Pradeep Natarajan, Emily Greenwald, Benjamin J. Strober, Rachel L. Kember, Emily K. Tsang, Bence Kotis, Seyedeh M. Zekavat, YoSon Park, Marcello Ziosi, Xin Li, Craig Smail
Publikováno v:
Science
PMC
PMC
© 2020 American Association for the Advancement of Science. All rights reserved. INTRODUCTION: The human genome contains tens of thousands of rare (minor allele frequency 800 genomes matched with transcriptomes across 49 tissues, we were able to stu
Autor:
Olivia M. de Goede, Daniel C. Nachun, Nicole M. Ferraro, Michael J. Gloudemans, Abhiram S. Rao, Craig Smail, Tiffany Y. Eulalio, François Aguet, Bernard Ng, Jishu Xu, Alvaro N. Barbeira, Stephane E. Castel, Sarah Kim-Hellmuth, YoSon Park, Alexandra J. Scott, Benjamin J. Strober, Christopher D. Brown, Xiaoquan Wen, Ira M. Hall, Alexis Battle, Tuuli Lappalainen, Hae Kyung Im, Kristin G. Ardlie, Sara Mostafavi, Thomas Quertermous, Karla Kirkegaard, Stephen B. Montgomery, Shankara Anand, Stacey Gabriel, Gad A. Getz, Aaron Graubert, Kane Hadley, Robert E. Handsaker, Katherine H. Huang, Xiao Li, Daniel G. MacArthur, Samuel R. Meier, Jared L. Nedzel, Duyen T. Nguyen, Ayellet V. Segrè, Ellen Todres, Brunilda Balliu, Rodrigo Bonazzola, Andrew Brown, Donald F. Conrad, Daniel J. Cotter, Nancy Cox, Sayantan Das, Emmanouil T. Dermitzakis, Jonah Einson, Barbara E. Engelhardt, Eleazar Eskin, Elise D. Flynn, Laure Fresard, Eric R. Gamazon, Diego Garrido-Martín, Nicole R. Gay, Roderic Guigó, Andrew R. Hamel, Yuan He, Paul J. Hoffman, Farhad Hormozdiari, Lei Hou, Brian Jo, Silva Kasela, Seva Kashin, Manolis Kellis, Alan Kwong, Xin Li, Yanyu Liang, Serghei Mangul, Pejman Mohammadi, Manuel Muñoz-Aguirre, Andrew B. Nobel, Meritxell Oliva, Yongjin Park, Princy Parsana, Ferran Reverter, John M. Rouhana, Chiara Sabatti, Ashis Saha, Matthew Stephens, Barbara E. Stranger, Nicole A. Teran, Ana Viñuela, Gao Wang, Fred Wright, Valentin Wucher, Yuxin Zou, Pedro G. Ferreira, Gen Li, Marta Melé, Esti Yeger-Lotem, Debra Bradbury, Tanya Krubit, Jeffrey A. McLean, Liqun Qi, Karna Robinson, Nancy V. Roche, Anna M. Smith, David E. Tabor, Anita Undale, Jason Bridge, Lori E. Brigham, Barbara A. Foster, Bryan M. Gillard, Richard Hasz, Marcus Hunter, Christopher Johns, Mark Johnson, Ellen Karasik, Gene Kopen, William F. Leinweber, Alisa McDonald, Michael T. Moser, Kevin Myer, Kimberley D. Ramsey, Brian Roe, Saboor Shad, Jeffrey A. Thomas, Gary Walters, Michael Washington, Joseph Wheeler, Scott D. Jewell, Daniel C. Rohrer, Dana R. Valley, David A. Davis, Deborah C. Mash, Mary E. Barcus, Philip A. Branton, Leslie Sobin, Laura K. Barker, Heather M. Gardiner, Maghboeba Mosavel, Laura A. Siminoff, Paul Flicek, Maximilian Haeussler, Thomas Juettemann, W. James Kent, Christopher M. Lee, Conner C. Powell, Kate R. Rosenbloom, Magali Ruffier, Dan Sheppard, Kieron Taylor, Stephen J. Trevanion, Daniel R. Zerbino, Nathan S. Abell, Joshua Akey, Lin Chen, Kathryn Demanelis, Jennifer A. Doherty, Andrew P. Feinberg, Kasper D. Hansen, Peter F. Hickey, Farzana Jasmine, Lihua Jiang, Rajinder Kaul, Muhammad G. Kibriya, Jin Billy Li, Qin Li, Shin Lin, Sandra E. Linder, Brandon L. Pierce, Lindsay F. Rizzardi, Andrew D. Skol, Kevin S. Smith, Michael Snyder, John Stamatoyannopoulos, Hua Tang, Meng Wang, Latarsha J. Carithers, Ping Guan, Susan E. Koester, A. Roger Little, Helen M. Moore, Concepcion R. Nierras, Abhi K. Rao, Jimmie B. Vaught, Simona Volpi
Publikováno v:
Cell
Long non-coding RNA (lncRNA) genes have well-established and important impacts on molecular and cellular functions. However, among the thousands of lncRNA genes, it is still a major challenge to identify the subset with disease or trait relevance. To
Autor:
Beryl B. Cummings, Carsten G. Bönnemann, Payam Mohassel, Pejman Mohammadi, Christina Sousa, Jonah Einson, Tuuli Lappalainen, A. Reghan Foley, Paul J. Hoffman, Zhuoxun Jiang, Heather E. Wheeler, Hae Kyung Im, Stephane E. Castel, Daniel G. MacArthur, Sandra Donkervoort
Publikováno v:
Science (New York, N.Y.). 366(6463)
A statistical model to find disease genes Genetic variation is high among individuals, which makes it difficult to identify any one specific pathogenetic variant in patients with idiopathic disease, especially those that are in noncoding regions of t
Autor:
Pejman Mohammadi, Paul J. Hoffman, Stephane E. Castel, Jonah Einson, Tuuli Lappalainen, Daniel G. MacArthur, Beryl B. Cummings, Hae Kyung Im, Carsten G. Bönnemann, Heather E. Wheeler, Reghan Foley, Payam Mohassel, Sandra Donkervoort, Christina Sousa
Transcriptome data holds substantial promise for better interpretation of rare genetic variants in basic research and clinical settings. Here, we introduce ANalysis of Expression VAriation (ANEVA) to quantify genetic variation in gene dosage from all
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19d938d48ccb3489ea79ac8f316b85db
https://doi.org/10.1101/632794
https://doi.org/10.1101/632794