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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
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 Tan, Meng How and Li, Qin and Shanmugam, Raghuvaran and Piskol, Robert and Kohler, Jennefer and Young, Amy N and Liu, Kaiwen Ivy and Zhang, Rui and Ramaswami, Gokul and Ariyoshi, Kentaro and Gupte, Ankita and Keegan, Liam P and George, Cyril X and Ramu, Avinash and Huang, Ni and Pollina, Elizabeth A and Leeman, Dena S and Rustighi, Alessandra and Goh, Y. P. Sharon 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 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 ... and Gtex Consortium 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. 249 - 254
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
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
The American Journal of Human Genetics, ISSN 0002-9297, 06/2016, Volume 98, Issue 6, pp. 1092 - 1100
Journal Article