WFRF:(Kaput J)
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 04479naa a2200829 4500 | |
| 001 | oai:lup.lub.lu.se:178779e1-0972-433b-bcc1-81f08416a77f | |
| 003 | SwePub | |
| 008 | 160401s2012 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://lup.lub.lu.se/record/32841872 URI |
| 024 | 7 | a https://doi.org/10.1002/humu.221472 DOI |
| 040 | a (SwePub)lu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a art2 swepub-publicationtype |
| 072 | 7 | a ref2 swepub-contenttype |
| 100 | 1 | a Patrinos, George P.4 aut |
| 245 | 1 0 | a Human variome project country nodes: Documenting genetic information within a country |
| 264 | c 2012-07-18 | |
| 264 | 1 | b Hindawi Limited,c 2012 |
| 520 | a The Human Variome Project (http://www.humanvariomeproject.org) is an international effort aiming to systematically collect and share information on all human genetic variation. The two main pillars of this effort are gene/disease-specific databases and a network of Human Variome Project Country Nodes. The latter are nationwide efforts to document the genomic variation reported within a specific population. The development and successful operation of the Human Variome Project Country Nodes are of utmost importance to the success of Human Variome Project's aims and goals because they not only allow the genetic burden of disease to be quantified in different countries, but also provide diagnosticians and researchers access to an up-to-date resource that will assist them in their daily clinical practice and biomedical research, respectively. Here, we report the discussions and recommendations that resulted from the inaugural meeting of the International Confederation of Countries Advisory Council, held on 12th December 2011, during the 2011 Human Variome Project Beijing Meeting. We discuss the steps necessary to maximize the impact of the Country Node effort for developing regional and country-specific clinical genetics resources and summarize a few well-coordinated genetic data collection initiatives that would serve as paradigms for similar projects. Hum Mutat 33:15131519, 2012. (c) 2012 Wiley Periodicals, Inc. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
| 653 | a human variome project | |
| 653 | a country nodes | |
| 653 | a national | |
| 653 | a ethnic mutation | |
| 653 | a databases | |
| 653 | a populations | |
| 653 | a genomic variation | |
| 653 | a genomics | |
| 700 | 1 | a Smith, Timothy D.4 aut |
| 700 | 1 | a Howard, Heather4 aut |
| 700 | 1 | a Al-Mulla, Fand4 aut |
| 700 | 1 | a Chouchane, Lotfi4 aut |
| 700 | 1 | a Hadjisavvas, Andreas4 aut |
| 700 | 1 | a Hamed, Sherifa A.4 aut |
| 700 | 1 | a Li, Xi-Tao4 aut |
| 700 | 1 | a Marafie, Makia4 aut |
| 700 | 1 | a Ramesar, Rajkumar S.4 aut |
| 700 | 1 | a Ramos, Feliciano J.4 aut |
| 700 | 1 | a de Rave, Thomy4 aut |
| 700 | 1 | a El-Ruby, Mona O.4 aut |
| 700 | 1 | a Shrestha, Tilak Ram4 aut |
| 700 | 1 | a Sobrido, Maria-Jess4 aut |
| 700 | 1 | a Tadmouri, Ghazi4 aut |
| 700 | 1 | a Witsch-Baumgartner, Martina4 aut |
| 700 | 1 | a Zilfali, Bin Alwi4 aut |
| 700 | 1 | a Auerbach, Arleen D.4 aut |
| 700 | 1 | a Carpenter, Kevin4 aut |
| 700 | 1 | a Cutting, Garry R.4 aut |
| 700 | 1 | a Chi Dung, Vu4 aut |
| 700 | 1 | a Grody, Wayne4 aut |
| 700 | 1 | a Hasler, Julia4 aut |
| 700 | 1 | a Jorde, Lynn4 aut |
| 700 | 1 | a Kaput, Jim4 aut |
| 700 | 1 | a Macek, Milan4 aut |
| 700 | 1 | a Matsubara, Yoichi4 aut |
| 700 | 1 | a Padilla, Carmancita4 aut |
| 700 | 1 | a Robinson, Helen4 aut |
| 700 | 1 | a Rojas-Martinez, Augusto4 aut |
| 700 | 1 | a Taylor, Graham R.4 aut |
| 700 | 1 | a Vihinen, Maunou Lund University,Lunds universitet,Proteinbioinformatik,Forskargrupper vid Lunds universitet,Protein Bioinformatics,Lund University Research Groups4 aut0 (Swepub:lu)med-mnv |
| 700 | 1 | a Weber, Tom4 aut |
| 700 | 1 | a Burn, John4 aut |
| 700 | 1 | a Qi, Ming4 aut |
| 700 | 1 | a Cotton, Richard G. H.4 aut |
| 700 | 1 | a Rimoin, David4 aut |
| 710 | 2 | a Proteinbioinformatikb Forskargrupper vid Lunds universitet4 org |
| 773 | 0 | t Human Mutationd : Hindawi Limitedg 33:11, s. 1513-1519q 33:11<1513-1519x 1059-7794 |
| 856 | 4 | u http://dx.doi.org/10.1002/humu.22147y FULLTEXT |
| 856 | 4 8 | u https://lup.lub.lu.se/record/3284187 |
| 856 | 4 8 | u https://doi.org/10.1002/humu.22147 |
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