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Human Mutation, ISSN 1059-7794, 12/2018, Volume 39, Issue 12, pp. 1803 - 1813
The Human Genome Variation Society (HGVS) nomenclature guidelines encourage the accurate and standard description of DNA, RNA, and protein sequence variants in... 
sequence variant | HGVS | clinvar | variant representation | GUIDELINES | AMERICAN-COLLEGE | STANDARDS | MEDICAL GENETICS | GENOME | NAME | JOINT-CONSENSUS-RECOMMENDATION | GENETICS & HEREDITY | ASSOCIATION | Nucleotide sequence | Transcription | Nomenclature | Amino acid sequence | Data processing | Genomes | Ribonucleic acid--RNA | Deoxyribonucleic acid--DNA | Informatics
Journal Article
Judgment and Decision Making, ISSN 1930-2975, 07/2015, Volume 10, Issue 4, pp. 314 - 331
Journal Article
by Locke, A.E and Kahali, B and Berndt, S.I and Justice, A.E and Pers, T.H and Day, F.R and Powell, C and Vedantam, S and Buchkovich, M.L and Yang, J and Croteau-Chonka, D.C and Esko, T and Fall, T and Ferreira, T and Gustafsson, S and Kutalik, Z and Luan, J and Magi, R and Randall, J.C and Winkler, T.W and Wood, A.R and Workalemahu, T and Faul, J.D and Smith, J.A and Zhao, J and Zhao, W and Chen, J and Fehrmann, R and Hedman, A.K and Karjalainen, J and Schmidt, E.M and Absher, D and Amin, N and Anderson, D and Beekman, M and Bolton, J.L and Bragg-Gresham, J.L and Buyske, S and Demirkan, A and Deng, G and Ehret, G.B and Feenstra, B and Feitosa, M.F and Fischer, K and Goel, A and Gong, J and Jackson, A.U and Kanoni, S and Kleber, M.E and Kristiansson, K and Lim, U and Lotay, V and Mangino, M and Leach, I. Mateo and Medina-Gomez, C and Medland, S.E and Nalls, M.A and Palmer, C.D and Pasko, D and Pechlivanis, S and Peters, M.J.W and Prokopenko, I and Shungin, D and Stancakova, A and Strawbridge, R.J and Sung, Y. Ju and Tanaka, T and Teumer, A and Trompet, S and Laan, S.W. van der and Setten, J. van and Vliet-Ostaptchouk, J.V. Van and Wang, Z and Yengo, L and Zhang, W and Isaacs, A and Albrecht, E and Arnlov, J and Arscott, G.M and Attwood, A.P and Bandinelli, S and Barrett, A and Bas, I.N and Bellis, C and Bennett, A.J and Berne, C and Blagieva, R and Bluher, M and Bohringer, S and Bonnycastle, L.L and Bottcher, Y and Boyd, H.A and Bruinenberg, M and Caspersen, I.H and Chen, Y.D and Clarke, R and Daw, E.W and Craen, A.J. de and Delgado, G and Dimitriou, M and ... and ADIPOGen Consortium and PAGE Consortium and LifeLines Cohort Study and MIGen Consortium and CARDIOGRAMplusC4D Consortium and MuTHER Consortium and ICBP and CKDGen Consortium and Int Endogene Consortium and GENIE Consortium and MAGIC Investigators and ReproGen Consortium and AGEN-BMI Working Grp and GLGC and International Endogene Consortium and AGEN-BMI Working Group and The PAGE Consortium and The International Endogene Consortium and The MAGIC Investigators and The ReproGen Consortium and The CKDGen Consortium and The ADIPOGen Consortium and The ICBP and The CARDIOGRAMplusC4D Consortium and The GLGC and The GENIE Consortium and The AGEN-BMI Working Group and The MIGen Consortium and The MuTHER Consortium and The LifeLines Cohort Study and Medicinska fakulteten and Science for Life Laboratory, SciLifeLab and Medicinska och farmaceutiska vetenskapsområdet and Medicinsk genetik och genomik and Geriatrik and Uppsala universitet and Klinisk diabetologi och metabolism and Institutionen för immunologi, genetik och patologi and Molekylär medicin and Kardiovaskulär epidemiologi and Institutionen för medicinska vetenskaper and Molekylär epidemiologi and Institutionen för folkhälso- och vårdvetenskap
Nature, ISSN 0028-0836, 2015, Volume 518, Issue 7538, pp. 197 - 206
Journal Article
by Speliotes, Elizabeth and Willer, Cristen and Berndt, Sonja and Monda, Keri and Thorleifsson, Gudmar and Jackson, Anne and Allen, H.L and Lindgren, Cecilia and Luan, J and Mägi, Reedik and Randall, Joshua and Vedantam, Sailaja and Winkler, Thomas and Qi, Lu and Workalemahu, Tsegaselassie and Heid, Iris and Steinthorsdottir, Valgerdur and Stringham, Heather and Wheeler, Eleanor and Wood, Anew and Ferreira, Teresa and Weyant, Robert and Segrè, Ayellet and Eestrada, Karol and Liang, Liming and Nemesh, James and Park, J.H and Gustafsson, Stefan and Kilpeläinen, Tuomas and Yang, Joanna and Bouatia-Naji, Nabila and Eesko, Tõnu and Feitosa, Mary Furlan and Kutalik, Zoltán and Mangino, Massimo and Raychaudhuri, Soumya and Scherag, Ane and Smith, Albert Vernon and Welch, Ryan and Zhao, Jing Hua and Aben, Katja and Absher, Devin and Amin, Najaf and Dixon, Anna and Fisher, Eeva and Glazer, Nicole and Goddard, Michael and Heard-Costa, Nancy and Hoesel, Volker and Hottenga, Jouke Jan and Johansson, Åsa and Johnson, Toby and Ketkar, Shamika and Lamina, Claudia and Li, Shengxu and Moffatt, Miriam and Myers, Richard and Narisu, Narisu and Perry, John and Peters, Marjolein and Preuss, Michael and Ripatti, Samuli and Rivadeneira Ramirez, Fernando and Sandholt, Camilla and Scott, Laura and Timpson, Nicholas and Tyrer, Jonathan and Wingerden, Sophie and White, Charles and Wiklund, Freik and Barlassina, Christina and Chasman, Daniel and Cooper, Matthew and Jansson, J.O and Lawrence, Robert and Pellikka, Niina and Prokopenko, Inga and Shi, Jianxin and Thiering, Eelisabeth and Alavere, Helene and Alibrandi, Maria and Almgren, Peter and Arnold, Alice and Aspelund, Thor and Atwood, Larry and Balkau, Beverley and Balmforth, Anthony and Bennett, Amanda and Ben-Shlomo, Y and Bergman, Richard and Bergmann, Sven and Biebermann, Heike and Blakemore, Alexana and Boes, Tanja and Bonnycastle, Lori and Bornstein, Stefan and Brown, Morris and Buchanan, Thomas and Busonero, F and Campbell, Harry and ... and MAGIC and Procardis Consortium and on behalf of Procardis Consortium and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för genetik och patologi and Uppsala universitet
Nature Genetics, ISSN 1061-4036, 11/2010, Volume 42, Issue 11, pp. 937 - 948
Journal Article
by Wood, Anew R and Esko, Tonu and Yang, Jian and Vedantam, Sailaja and Pers, Tune H and Gustafsson, Stefan and Chu, Auey Y and Estrada, Karol and Luan, Jian'an and Kutalik, Zoltán and Amin, Najaf and Buchkovich, Martin L and Croteau-Chonka, Damien C and Day, Felix R and Duan, Yanan and Fall, Tove and Fehrmann, Rudolf and Ferreira, Teresa and Jackson, Anne U and Karjalainen, Juha and Lo, Ken Sin and Locke, Adam E and Mägi, Reedik and Mihailov, Evelin and Porcu, Eleonora and Randall, Joshua C and Scherag, Ané and Vinkhuyzen, Anna A. E and Westra, Harm-Jan and Winkler, Thomas W and Workalemahu, Tsegaselassie and Zhao, Jing Hua and Absher, Devin and Albrecht, Eva and Anderson, Denise and Baron, Jeffrey and Beekman, Marian and Demirkan, Ayse and Ehret, Georg B and Feenstra, Bjarke and Feitosa, Mary F and Fischer, Krista and Fraser, Ross M and Goel, Anuj and Gong, Jian and Justice, Anne E and Kanoni, Stavroula and Kleber, Marcus E and Kristiansson, Kati and Lim, Unhee and Lotay, Vaneet and Lui, Julian C and Mangino, Massimo and Mateo Leach, Irene and Medina-Gomez, Carolina and Nalls, Michael A and Nyholt, Dale R and Palmer, Cameron D and Pasko, Dorota and Pechlivanis, Sonali and Prokopenko, Inga and Ried, Janina S and Ripke, Stephan and Shungin, Dmitry and Stancáková, Alena and Strawbridge, Rona J and Sung, Yun Ju and Tanaka, Toshiko and Teumer, Alexander and Trompet, Stella and van der Laan, Sander W and van Setten, Jessica and van Vliet-Ostaptchouk, Jana V and Wang, Zhaoming and Yengo, Loïc and Zhang, Weihua and Afzal, Uzma and Arnlöv, Johan and Arscott, Gillian M and Bandinelli, Stefania and Barrett, Amy and Bellis, Claire and Bennett, Amanda J and Berne, Christian and Blüher, Matthias and Bolton, Jennifer L and Böttcher, Yvonne and Boyd, Heather A and Bruinenberg, Marcel and Buckley, Brendan M and Buyske, Steven and Caspersen, Ida H and Chines, Peter S and Clarke, Robert and Claudi-Boehm, Simone and Cooper, Matthew and Daw, E. Warwick and de Jong, Pim A and Deelen, Joris and Delgado, Graciela and ... and PAGE Consortium and MIGen Consortium and LifeLines Cohort Study and Elect Med Records & Genom eMERGE C and Electronic Medical Records and Genomics (eMEMERGEGE) Consortium and PAGEGE Consortium and The MIGen Consortium and The PAGE Consortium and The Electronic Medical Records and Genomics (eMERGE) Consortium and The LifeLines Cohort Study and Högskolan Dalarna and