Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

Autor: Petros Papadopoulos, Swee Lay Thein, Kenneth R. Peterson, Iris Schrijver, Kamran Moradkhani, Sonja Pavlovic, Barnaby Clark, James D. Hoyer, Raymond E. Tully, Philippe Joly, Alain Francina, D J Anstee, Lucia Perseu, Ross C. Hardison, Emmanuel Kanavakis, Halyna Fedosyuk, Stephan Menzel, Douglas R. Higgs, Maja Stojiljkovic, Henri Wajcman, Belinda Giardine, Stefania Satta, Belinda K. Singleton, Marianthi Georgitsi, John S. Waye, Webb Miller, George P. Patrinos, Branka Zukic, Sjaak Philipsen, Milena Radmilovic, J. Traeger-Synodinos, Flávia C. Costa, Donna Maglott, David H.K. Chui, Monica V.E. Gallivan, Panagoula Kollia, Martin Jarvis, A. Nazli Basak, Cornelis L. Harteveld, Adamantia Papachatzopoulou, Richard J. Gibbons, Joseph Borg, John Old, Manoussos N. Papadakis, Claudia Wiemann, Renzo Galanello, Piero C. Giordano, Paula Faustino, Cathy Riemer, Alex E. Felice, Takahito Wada

Publikováno v: Nature Genetics; Vol 43
Nature Genetics, 43(4), 295-302

We developed a series of interrelated locus-specific databases to store all published and unpublished genetic variation related to these disorders, and then implemented microattribution to encourage submission of unpublished observations of genetic v

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bfcfaf3e53d2a8fdedc13f58bb18b86
https://doi.org/10.1038/ng.785

Planning the human variome project: the Spain report

Autor: Peter J. Oefner, M. V. Golubenko, Jim Kaput, Judith Savige, Helmut Blöcer, Maurizio Genuardi, Toshio Kojima, Ming Qi, Paul Flicek, Vera Lúcia Gil-da-Silva-Lopes, Rodney J. Scott, Sandrine Laradi, Jon W. Teague, Ada Hamosh, María Jesús Sobrido, Mollie Ullman-Cullere, Joji Utsunomiya, Robert Hoffmann, Simon B. Flanagan, Lawrence Cavedon, Steven F. Dobrowolski, Ludwine Messiaen, Elizabeth A. Shephard, Giuditta Perozzi, Mireille Claustres, Sue Povey, Elizabeth Webb, Rolf H. Sijmons, Anne Cambon-Thomsen, Hyang Sook Yoo, Donna Maglott, Gabriela Möslein, Jongsun Jung, Toshihiro Tanaka, Jong Bhak, Yoichi Furukawa, Stacey L. Bleoo, Aida I. Al Aqeel, Mark H. Paalman, Timothy D. Smith, Makia J. Marafie, Jillian S. Parboosingh, Garry R. Cutting, M. Rosário N.Dos Santos, Ho Ghang, Daniela Seminara, Ana María Oller de Ramirez, Mariona Bustamante, Yeun Jun Chung, Carlos Díaz, Fahd Al-Mulla, Terence M. Harrison, John M. Hancock, Michael S. Watson, Rajkumar Ramesar, D. Scheible, Heather J. Howard, Mihai G. Netea, Marc S. Greenblatt, Ian Phillips, John Burn, Santos Alonso, Henk J van Kranen, George P. Patrinos, Carol Isaacson Barash, Suyash Prasad, Neskuts Izagirre, Ross C. Hardison, Inge Bernstein, Thomas K. Weber, Sean V. Tavtigian, Melissa L. Norton, Seon Hee Yim, Mauno Vihinen, Finlay A. Macrae, Rita Calzone, Richard G.H. Cotton, Meredith Yeager, C. Sue Richards, Yoichi Matsubara, Yoon Shin Cho, Arleen D. Auerbach, Johan T. den Dunnen, Young Ii Yeom, Jumana Y. Al-Aama, Raymond Dalgleish, Graham R. Taylor, Yeon Su Lee, Steven G.E. Marsh, Steven E. Brenner, James O'Leary, Rania Horaitis, Stefan Aretz, Bharati Bapat, David J. Quin, Lauren Hardman, Rosemary Ekong, William S. Oetting, Paola Carrera, Michele Cargill, Jong-Young Lee, Thoralf Töpel

Publikováno v: Human Mutation, 30, 496-510
Human Mutation, 30, 4, pp. 496-510

Contains fulltext : 81952.pdf (Publisher’s version ) (Closed access) The remarkable progress in characterizing the human genome sequence, exemplified by the Human Genome Project and the HapMap Consortium, has led to the perception that knowledge an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3634df92404d67dce51dc417d3d0468a
https://doi.org/10.1002/humu.20972

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Locus-Specific Databases and Recommendations to Strengthen Their Contribution to the Classification of Variants in Cancer Susceptibility Genes

Autor: Olga M. Sinilnikova, Magali Olivier, Marc S. Greenblatt, Maurizio Genuardi, Lawrence C. Brody, Sharon E. Plon, Robert M.W. Hofstra, William D. Foulkes, Rolf H. Sijmons, Amanda B. Spurdle

Publikováno v: ResearcherID
Human Mutation, 29(11), 1273-1281. Wiley

Locus-specific databases (LSDBs) are curated collections of sequence variants in genes associated with disease. LSDBs of cancer-related genes often serve as a critical resource to researchers, diagnostic laboratories, clinicians, and others in the ca

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8288a93a3d38ea77f4e536d1d2bc333
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=ISI&KeyUT=WOS:000260897200003&KeyUID=WOS:000260897200003