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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 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 Sampson, Joshua N and Wheeler, William A and Yeager, Meredith and Panagiotou, Orestis and Wang, Zhaoming and Berndt, Sonja I and Lan, Qing and Abnet, Christian C and Amundadottir, Laufey T and Figueroa, Jonine D and Landi, Maria Teresa and Mirabello, Lisa and Savage, Sharon A and Taylor, Philip R and Vivo, Immaculata De and McGlynn, Katherine A and Purdue, Mark P and Rajaraman, Preetha and Adami, Hans-Olov and Ahlbom, Anders and Albanes, Demetrius and Amary, Maria Fernanda and An, She-Juan and Andersson, Ulrika and Aniole, Gerald and Anulis, Irene L and Angelucci, Emanuele and Ansell, Stephen M and Arici, Cecilia and Armstrong, Bruce K and Arslan, Alan A and Austin, Melissa A and Baris, Dalsu and Barkauskas, Donald A and Bassig, Bryan A and Becker, Nikolaus and Benavente, Yolanda and Benhamou, Simone and Berg, Christine and Van Den Berg, David and Bernstein, Leslie and Bertrand, Kimberly A and Birmann, Brenda M and Black, Amanda and Boeing, Heiner and Boffetta, Paolo and Boutron-Ruault, Marie-Christine and Bracci, Paige M and Brinton, Louise and Brooks-Wilson, Angela R and Bueno-de-Mesquita, H Bas and Burdett, Laurie and Buring, Julie and Butler, Mary Ann and Cai, Qiuyin and Cancel-Tassin, Geraldine and Canzian, Federico and Carrato, Alfredo and Carreon, Tania and Carta, Angela and Chan, John K C and Chang, Ellen T and Chang, Gee-Chen and Chang, I-Shou and Chang, Jiang and Chang-Claude, Jenny and Chen, Chien-Jen and Chen, Chih-Yi and Chen, Chu and Chen, Chung-Hsing and Chen, Constance and Chen, Hongyan and Chen, Kexin and Chen, Kuan-Yu and Chen, Kun-Chieh and Chen, Ying and Chen, Ying-Hsiang and Chen, Yi-Song and Chen, Yuh-Min and Chien, Li-Hsin and Chirlaque, María-Dolores and Choi, Jin Eun and Choi, Yi Young and Chow, Wong-Ho and Chung, Charles C and Clavel, Jacqueline and Clavel-Chapelon, Françoise and Cocco, Pierluigi and Colt, Joanne S and Comperat, Eva and Conde, Lucia and Connors, Joseph M and Conti, David and Cortessis, Victoria K and Cotterchio, Michelle and Cozen, Wendy and Crouch, Simon and Crous-Bou, Marta and Cussenot, Olivier and Davis, Faith G and ...
Journal of the National Cancer Institute, ISSN 0027-8874, 12/2015, Volume 107, Issue 12, p. djv279
Journal Article
by Sampson, JN and Wheeler, WA and Yeager, M and Panagiotou, O and Wang, Z and Berndt, SI and Lan, Q and Abnet, CC and Amundadottir, LT and Figueroa, JD and Landi, MT and Mirabello, L and Savage, SA and Taylor, PR and De Vivo, I and McGlynn, KA and Purdue, MP and Rajaraman, P and Adami, HO and Ahlbom, A and Albanes, D and Amary, MF and An, SJ and Andersson, U and Andriole, G and Andrulis, IL and Angelucci, E and Ansell, SM and Arici, C and Armstrong, BK and Arslan, AA and Austin, MA and Baris, D and Barkauskas, DA and Bassig, BA and Becker, N and Benavente, Y and Benhamou, S and Berg, C and Van Den Berg, D and Bernstein, L and Bertrand, KA and Birmann, BM and Black, A and Boeing, H and Boffetta, P and Boutron-Ruault, MC and Bracci, PM and Brinton, L and Brooks-Wilson, AR and Bueno-De-Mesquita, HB and Burdett, L and Buring, J and Butler, MA and Cai, QY and Cancel-Tassin, G and Canzian, F and Carrato, A and Carreon, T and Carta, A and Chan, JKC and Chang, ET and Chang, GC and Chang, IS and Chang, J and Chang-Claude, J and Chen, CJ and Chen, CY and Chen, C and Chen, CH and Chen, HY and Chen, KX and Chen, KY and Chen, KC and Chen, Y and Chen, YH and Chen, YS and Chen, YM and Chien, LH and Chirlaque, MD and Choi, JE and Choi, YY and Chow, WH and Chung, CC and Clavel, J and Clavel-Chapelon, F and Cocco, P and Colt, JS and Comperat, E and Conde, L and Connors, JM and Conti, D and Cortessis, VK and Cotterchio, M and Cozen, W and Crouch, S and Crous-Bou, M and Cussenot, O and Davis, FG and Ding, T and ... and Medicinska fakulteten and Institutionen för strålningsvetenskaper and Umeå universitet and Institutionen för folkhälsa och klinisk medicin and Urologi och andrologi and Kirurgi and Näringsforskning and Institutionen för kirurgisk och perioperativ vetenskap and Onkologi
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, ISSN 0027-8874, 12/2015, Volume 107, Issue 12
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 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 Li, Xin and Kim, Yungil and Tsang, Emily K and Davis, Joe R and Damani, Farhan N and Chiang, Colby and Hess, Gaelen T and Zappala, Zachary and Strober, Benjamin J and Scott, Alexandra J and Li, Amy and Ganna, Andrea and Bassik, Michael C and Merker, Jason D 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 Bogu, Gireesh K and Brown, Andrew and Brown, Christopher D and Castel, Stephane E and Chen, Lin S and Conrad, Donald F and Cox, Nancy J 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-Hellmuth, Sarah and Lappalainen, Tuuli and Li, Gen 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, 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 Shabalin, Andrey A and Sodaei, Reza and Stephens, Matthew and Stranger, Barbara E and Sul, Jae Hoon and Urbut, Sarah and Van De Bunt, Martijn and Wang, Gao and Wen, Xiaoquan 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. 239 - 243