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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
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Cell, ISSN 0092-8674, 12/2015, Volume 163, Issue 7, pp. 1702 - 1715
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by Amendola, Laura M and Dorschner, Michael O and Robertson, Peggy D and Salama, Joseph S and Hart, Ragan and Shirts, Brian H and Murray, Mitzi L and Tokita, Mari J and Gallego, Carlos J and Kim, Daniel Seung and Bennett, James T and Crosslin, David R and Ranchalis, Jane and Jones, Kelly L and Rosenthal, Elisabeth A and Jarvik, Ella R and Itsara, Andy and Turner, Emily H and Herman, Daniel S and Schleit, Jennifer and Burt, Amber and Jamal, Seema M and Abrudan, Jenica L and Johnson, Andrew D and Conlin, Laura K and Dulik, Matthew C and Santani, Avni and Metterville, Danielle R and Kelly, Melissa and Foreman, Ann Katherine M and Lee, Kristy and Taylor, Kent D and Guo, Xiuqing and Crooks, Kristy and Kiedrowski, Lesli A and Raffel, Leslie J and Gordon, Ora and Machini, Kalotina and Desnick, Robert J and Biesecker, Leslie G and Lubitz, Steven A and Mulchandani, Surabhi and Cooper, Greg M and Joffe, Steven and Richards, C. Sue and Yang, Yaoping and Rotter, Jerome I and Rich, Stephen S and O'Donnell, Christopher J and Berg, Jonathan S and Spinner, Nancy B and Evans, James P and Fullerton, Stephanie M and Leppig, Kathleen A and Bennett, Robin L and Bird, Thomas and Sybert, Virginia P and Grady, William M and Tabor, Holly K and Kim, Jerry H and Bamshad, Michael J and Wilfond, Benjamin and Motulsky, Arno G and Scott, C. Ronald and Pritchard, Colin C and Walsh, Tom D and Burke, Wylie and Raskind, Wendy H and Byers, Peter and Hisama, Fuki M and Rehm, Heidi and Nickerson, Debbie A and Jarvik, Gail P
Genome Research, ISSN 1088-9051, 03/2015, Volume 25, Issue 3, pp. 305 - 315
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Journal Article
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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