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ISSN 1471-2105, 2018
Background Expression quantitative trait loci (eQTL) analysis identifies genetic markers associated with the expression of a gene. Most existing eQTL analyses... 
Gene expression | Tissues | Bioinformatics
Journal Article
by Battle, Alexis and Brown, Christopher D and Engelhardt, Barbara E and Montgomery, Stephen B and Aguet, François and Ardlie, Kristin G and Cummings, Beryl B and Gelfand, Ellen T and Getz, Gad and Hadley, Kane and Handsaker, Robert E and Huang, Katherine H and Kashin, Seva and Karczewski, Konrad J and Lek, Monkol and Li, Xiao and MacArthur, Daniel G and Nedzel, Jared L and Nguyen, Duyen T and Noble, Michael S and Segrè, Ayellet V and Trowbridge, Casana A and Tukiainen, Taru and Abell, Nathan S and Balliu, Brunilda and Barshir, Ruth and Basha, Omer and Bogu, Gireesh K and Brown, Anew and Castel, Stephane E and Chen, Lin S and Chiang, Colby and Conrad, Donald F and Cox, Nancy J and Damani, Farhan N and Davis, Joe R and Delaneau, Olivier and Dermitzakis, Emmanouil T and Eskin, Eleazar and Ferreira, Peo G and Frésard, Laure and Gamazon, Eric R and Garrido-Martín, Diego and Gewirtz, Ariel D. H and Gliner, Genna and Gloudemans, Michael J and Guigo, Roderic and Hall, Ira M and Han, Buhm and He, Yuan and Hormozdiari, Farhad and Howald, Ceic and Kyung Im, Hae and Jo, Brian and Yong Kang, Eun and Kim, Yungil and Kim-Hellmuth, Sarah and Lappalainen, Tuuli and Li, Gen and Li, Xin and Liu, Boxiang and Mangul, Serghei and McCarthy, Mark I and McDowell, Ian C and Mohammadi, Pejman and Monlong, Jean and Muñoz-Aguirre, Manuel and Ndungu, Anne W and Nicolae, Dan L and Nobel, Anew B and Oliva, Meritxell and Ongen, Halit and Palowitch, John J and Panousis, Nikolaos and Papasaikas, Panagiotis and Park, Yoson and Parsana, Princy and Payne, Anthony J and Peterson, Christine B and Quan, Jie and Reverter, Ferran and Sabatti, Chiara and Saha, Ashis and Sammeth, Michael and Scott, Alexana J and Shabalin, Aney A and Sodaei, Reza and Stephens, Matthew and Stranger, Barbara E and Strober, Benjamin J and Sul, Jae Hoon and Tsang, Emily K and Urbut, Sarah and van de Bunt, Martijn and Wang, Gao and Wen, Xiaoquan and Wright, Fred A and Xi, Hualin S and Yeger-Lotem, Esti and Zappala, Zachary and ... and Pathology and Laboratory Data Analysis and Lab Data Anal Coordinating Ct and Stat Methods Grps-Anal Working Grp and Biospecimen Collection Source Sit and Genome Browser Data Integration and Biospecimen Core Resource-Vari and Leidos Biomedical-Project and Genome Browser Data Integr and Enhancing Gtex Egtex Grps and Gtex Consortium and Biospecimen Collection Source and Brain Bank Repository-Univ M and GTEx Consortium and Leidos Biomedical—Project Management and Laboratory, Data Analysis &Coordinating Center (LDACC) and NIH/NCI and Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group and Statistical Methods groups—Analysis Working Group and Biospecimen Collection Source Site—NDRI and NIH/NHGRI and Brain Bank Repository—University of Miami Brain Endowment Bank and Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz and NIH Common Fund and Enhancing GTEx (eGTEx) groups and NIH/NIMH and Genome Browser Data Integration &Visualization—EBI and Lead analysts and Biospecimen Collection Source Site—RPCI and Biospecimen collection and Biospecimen Core Resource—VARI and NIH program management and eQTL manuscript working group and ELSI Study and NIH/NIDA
Nature, ISSN 0028-0836, 2017, Volume 550, Issue 7675, pp. 204 - 213
Journal Article
Biometrics, ISSN 0006-341X, 06/2018, Volume 74, Issue 2, pp. 616 - 625
Journal Article
Transactions of the American Mathematical Society, ISSN 0002-9947, 01/2017, Volume 369, Issue 1, pp. 605 - 622
We define the entropy of an infinite family \mathcal {C} of measurable sets in a probability space, and show that a family has zero entropy if and only if it... 
Entropy | Uniform ergodicity | Total boundedness | Uniform mixing | VAPNIK-CHERVONENKIS CLASSES | MATHEMATICS | entropy | CONVERGENCE | total boundedness | uniform mixing
Journal Article
Biometrics, ISSN 0006-341X, 12/2015, Volume 71, Issue 4, pp. 1185 - 1194
Journal Article
by Barbeira, Alvaro N and Dickinson, Scott P and Bonazzola, Rodrigo and Zheng, Jiamao and Wheeler, Heather E and Torres, Jason M and Torstenson, Eric S and Shah, Kaanan P and Garcia, Tzintzuni and Edwards, Todd L and Stahl, Eli A and Huckins, Laura M and Aguet, François and Ardlie, Kristin G and Cummings, Beryl B and Gelfand, Ellen T and Getz, Gad and Hadley, Kane and Handsaker, Robert E and Huang, Katherine H and Kashin, Seva and Karczewski, Konrad J and Lek, Monkol and Li, Xiao and MacArthur, Daniel G and Nedzel, Jared L and Nguyen, Duyen T and Noble, Michael S and Segrè, Ayellet V and Trowbridge, Casandra A and Tukiainen, Taru and Abell, Nathan S and Balliu, Brunilda and Barshir, Ruth and Basha, Omer and Battle, Alexis and Bogu, Gireesh K and Brown, Andrew and Brown, Christopher D and Castel, Stephane E and Chen, Lin S and Chiang, Colby and Conrad, Donald F and Damani, Farhan N and Davis, Joe R and Delaneau, Olivier and Dermitzakis, Emmanouil T and Engelhardt, Barbara E and Eskin, Eleazar and Ferreira, Pedro G and Frésard, Laure and Gamazon, Eric R and Garrido-Martín, Diego and Gewirtz, Ariel D. H and Gliner, Genna and Gloudemans, Michael J and Guigo, Roderic and Hall, Ira M and Han, Buhm and He, Yuan and Hormozdiari, Farhad and Howald, Cedric and Jo, Brian and Kang, Eun Yong and Kim, Yungil and Kim-Hellmuth, Sarah and Lappalainen, Tuuli and Li, Gen and Li, Xin and Liu, Boxiang and Mangul, Serghei and McCarthy, Mark I and McDowell, Ian C and Mohammadi, Pejman and Monlong, Jean and Montgomery, Stephen B and Muñoz-Aguirre, Manuel and Ndungu, Anne W and Nobel, Andrew B and Oliva, Meritxell and Ongen, Halit and Palowitch, John J and Panousis, Nikolaos and Papasaikas, Panagiotis and Park, YoSon and Parsana, Princy and Payne, Anthony J and Peterson, Christine B and Quan, Jie and Reverter, Ferran and Sabatti, Chiara and Saha, Ashis and Sammeth, Michael and Scott, Alexandra J and Shabalin, Andrey A and Sodaei, Reza and Stephens, Matthew and Stranger, Barbara E and Strober, Benjamin J and Sul, Jae Hoon and ... and GTEx Consortium
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 1825 - 20
Journal Article
Journal of the American Statistical Association, ISSN 0162-1459, 09/2011, Volume 106, Issue 495, pp. 931 - 936
Journal Article
Journal of the American Statistical Association, ISSN 0162-1459, 09/2011, Volume 106, Issue 495, pp. 931 - 936
Journal Article
by Ardlie, Kristin G and DeLuca, David S and Segrè, Ayellet V and Sullivan, Timothy J and Young, Taylor R and Gelfand, Ellen T and Trowbridge, Casandra A and Maller, Julian B and Tukiainen, Taru and Lek, Monkol and Ward, Lucas D and Kheradpour, Pouya and Iriarte, Benjamin and Meng, Yan and Palmer, Cameron D and Esko, Tõnu and Winckler, Wendy and Hirschhorn, Joel N and Kellis, Manolis and MacArthur, Daniel G and Getz, Gad and Shabalin, Andrey A and Li, Gen and Zhou, Yi-Hui and Nobel, Andrew B and Rusyn, Ivan and Wright, Fred A and Lappalainen, Tuuli and Ferreira, Pedro G and Ongen, Halit and Rivas, Manuel A and Battle, Alexis and Mostafavi, Sara and Monlong, Jean and Sammeth, Michael and Melé, Marta and Reverter, Ferran and Goldmann, Jakob M and Koller, Daphne and Guigó, Roderic and McCarthy, Mark I and Dermitzakis, Emmanouil T and Gamazon, Eric R and Im, Hae Kyung and Konkashbaev, Anuar and Nicolae, Dan L and Cox, Nancy J and Flutre, Timothée and Wen, Xiaoquan and Stephens, Matthew and Pritchard, Jonathan K and Tu, Zhidong and Zhang, Bin and Huang, Tao and Long, Quan and Lin, Luan and Yang, Jialiang and Zhu, Jun and Liu, Jun and Brown, Amanda and Mestichelli, Bernadette and Tidwell, Denee and Lo, Edmund and Salvatore, Michael and Shad, Saboor and Thomas, Jeffrey A and Lonsdale, John T and Moser, Michael T and Gillard, Bryan M and Karasik, Ellen and Ramsey, Kimberly and Choi, Christopher and Foster, Barbara A and Syron, John and Fleming, Johnell and Magazine, Harold and Hasz, Rick and Walters, Gary D and Bridge, Jason P and Miklos, Mark and Sullivan, Susan and Barker, Laura K and Traino, Heather M and Mosavel, Maghboeba and Siminoff, Laura A and Valley, Dana R and Rohrer, Daniel C and Jewell, Scott D and Branton, Philip A and Sobin, Leslie H and Barcus, Mary and Qi, Liqun and McLean, Jeffrey and Hariharan, Pushpa and Um, Ki Sung and Wu, Shenpei and Tabor, David and Shive, Charles and Smith, Anna M and Buia, Stephen A and ... and GTEx Consortium and The GTEx Consortium
Science, ISSN 0036-8075, 05/2015, Volume 348, Issue 6235, pp. 648 - 660
Journal Article
Journal of the American Statistical Association, ISSN 0162-1459, 2011, Volume 106, Issue 495, pp. 931 - 936
Journal Article
by Cummings, Beryl B and Marshall, Jamie L and Tukiainen, Taru and Lek, Monkol and Donkervoort, Sandra and Foley, A. Reghan and Bolduc, Veronique and Waddell, Leigh B and Sandaradura, Sarah A and O'Grady, Gina L and Estrella, Elicia and Reddy, Hemakumar M and Zhao, Fengmei and Weisburd, Ben and Karczewski, Konrad J and O'Donnell-Luria, Anne H and Birnbaum, Daniel and Sarkozy, Anna and Hu, Ying and Gonorazky, Hernan and Claeys, Kristl and Joshi, Himanshu and Bournazos, Adam and Oates, Emily C and Ghaoui, Roula and Davis, Mark R and Laing, Nigel G and Topf, Ana and Kang, Peter B and Beggs, Alan H and North, Kathryn N and Straub, Volker and Dowling, James J and Muntoni, Francesco and Clarke, Nigel F and Cooper, Sandra T and Bönnemann, Carsten G and MacArthur, Daniel G and Ardlie, Kristin G and Getz, Gad and Gelfand, Ellen T and Segrè, Ayellet V and Aguet, François and Sullivan, Timothy J and Li, Xiao and Nedzel, Jared L and Trowbridge, Casandra A and Hadley, Kane and Huang, Katherine H and Noble, Michael S and Nguyen, Duyen T and Nobel, Andrew B and Wright, Fred A and Shabalin, Andrey A and Palowitch, John J and Zhou, Yi-Hui and Dermitzakis, Emmanouil T and McCarthy, Mark I and Payne, Anthony J and Lappalainen, Tuuli and Castel, Stephane and Kim-Hellmuth, Sarah and Mohammadi, Pejman and Battle, Alexis and Parsana, Princy and Mostafavi, Sara and Brown, Andrew and Ongen, Halit and Delaneau, Olivier and Panousis, Nikolaos and Howald, Cedric and Van De Bunt, Martijn and Guigo, Roderic and Monlong, Jean and Reverter, Ferran and Garrido, Diego and Munoz, Manuel and Bogu, Gireesh and Sodaei, Reza and Papasaikas, Panagiotis and Ndungu, Anne W and Montgomery, Stephen B and Li, Xin and Fresard, Laure and Davis, Joe R and Tsang, Emily K and Zappala, Zachary and Abell, Nathan S and Gloudemans, Michael J and Liu, Boxiang and Damani, Farhan N and Saha, Ashis and Kim, Yungil and Strober, Benjamin J and He, Yuan and Stephens, Matthew and Pritchard, Jonathan K and Wen, Xiaoquan and Urbut, Sarah and Cox, Nancy J and ... and Genotype-Tissue Expression Cinsort and Genotype-Tissue Expression Consortium
Science Translational Medicine, ISSN 1946-6234, 04/2017, Volume 9, Issue 386, pp. eaal5209 - eaal5209
Exome and whole-genome sequencing are becoming increasingly routine approaches in Mendelian disease diagnosis. Despite their success, the current diagnostic... 
MEDICINE, RESEARCH & EXPERIMENTAL | VARIANTS | RNA-SEQ | ENHANCERS ESES | GUIDELINES | MUTATIONS | TOOL | CELL BIOLOGY | Collagen Type VI - genetics | Muscular Diseases - metabolism | Humans | Collagen Type VI - metabolism | Transcriptome - genetics | Muscular Diseases - genetics | Mutation | High-Throughput Nucleotide Sequencing - methods | Genètica
Journal Article
by Tukiainen, Taru and Villani, Alexandra-Chloé and Yen, Angela and Rivas, Manuel A and Marshall, Jamie L and Satija, Rahul and Aguirre, Matt and Gauthier, Laura and Fleharty, Mark and Kirby, Andrew and Cummings, Beryl B and Castel, Stephane E and Karczewski, Konrad J and Aguet, François and Byrnes, Andrea and Gelfand, Ellen T and Getz, Gad and Hadley, Kane and Handsaker, Robert E and Huang, Katherine H and Kashin, Seva and Lek, Monkol and Li, Xiao and Nedzel, Jared L and Nguyen, Duyen T and Noble, Michael S and Segrè, Ayellet V and Trowbridge, Casandra A and Abell, Nathan S and Balliu, Brunilda and Barshir, Ruth and Basha, Omer and Battle, Alexis and Bogu, Gireesh K and Brown, Andrew and Brown, Christopher D and Chen, Lin S and Chiang, Colby and Conrad, Donald F and Cox, Nancy J and Damani, Farhan N and Davis, Joe R and Delaneau, Olivier and Dermitzakis, Emmanouil T and Engelhardt, Barbara E and Eskin, Eleazar and Ferreira, Pedro G and Frésard, Laure and Gamazon, Eric R and Garrido-Martín, Diego and Gewirtz, Ariel D.H and Gliner, Genna and Gloudemans, Michael J and Guigo, Roderic and Hall, Ira M and Han, Buhm and He, Yuan and Hormozdiari, Farhad and Howald, Cedric and Im, Hae Kyung and Jo, Brian and Kang, Eun Yong and Kim, Yungil and Kim-Hellmuth, Sarah and Lappalainen, Tuuli and Li, Gen and Li, Xin and Liu, Boxiang and Mangul, Serghei and McCarthy, Mark I and McDowell, Ian C and Mohammadi, Pejman and Monlong, Jean and Montgomery, Stephen B and Muñoz-Aguirre, Manuel and Ndungu, Anne W and Nicolae, Dan L and Nobel, Andrew B and Oliva, Meritxell and Ongen, Halit and Palowitch, John J and Panousis, Nikolaos and Papasaikas, Panagiotis and Park, Yoson and Parsana, Princy and Payne, Anthony J and Peterson, Christine B and Quan, Jie and Reverter, Ferran and Sabatti, Chiara and Saha, Ashis and Sammeth, Michael and Scott, Alexandra J and Shabalin, Andrey A and Sodaei, Reza and Stephens, Matthew and Stranger, Barbara E and Strober, Benjamin J and Sul, Jae Hoon and Tsang, Emily K and ... and GTEx Consortium and Leidos Biomedical—Project Management and NIH/NCI and Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group and Statistical Methods groups—Analysis Working Group and Biospecimen Collection Source Site—NDRI and NIH/NHGRI and Brain Bank Repository—University of Miami Brain Endowment Bank and Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz and NIH Common Fund and Enhancing GTEx (eGTEx) groups and NIH/NIMH and Genome Browser Data Integration &Visualization—EBI and Biospecimen Collection Source Site—RPCI and Biospecimen Core Resource—VARI and ELSI Study and NIH/NIDA
Nature, ISSN 0028-0836, 10/2017, Volume 550, Issue 7675, pp. 244 - 248
Journal Article