How to catch all those mutations-the report of the third human variome project meeting, UNESCO Paris, May 2010

Human Mutation

Volumn 31, Issue 12, 2010, Pages 1374-1381

  Kohonen Corish, Maija R J ^a   Al Aama, Jumana Y ^b   Auerbach, Arleen D ^c   Axton, Myles ^d   Barash, Carol Isaacson ^e   Bernstein, Inge ^f   Béroud, Christophe ^g   Burn, John ^h   Cunningham, Fiona ⁱ   Cutting, Garry R ^j   Den Dunnen, Johan T ^k   Greenblatt, Marc S ^l   Kaput, Jim ^m   Katz, Michael ⁿ   Lindblom, Annika ^o   Macrae, Finlay ^p   Maglott, Donna ^q   Möslein, Gabriela ^r   Povey, Sue ^s   Ramesar, Raj ^t   Richards, Sue ^u   Seminara, Daniela ^v   Sobrido, María Jesús ^w   Tavtigian, Sean ^x   Taylor, Graham ^y   Vihinen, Mauno ^z   Winship, Ingrid ^p   Cotton, Richard G H ^aa   more..

^a UNIVERSITY OF NEW SOUTH WALES   (Australia)

^b KING ABDULAZIZ UNIVERSITY   (Saudi Arabia)

^c ROCKEFELLER UNIVERSITY   (United States)

^d c/o Nutrition Reviews Editorial Office   (United States)

^e Boston University   (United States)

^f HVIDOVRE HOSPITAL   (Denmark)

^g INSERM   (France)

^h NEWCASTLE UNIVERSITY   (United Kingdom)

ⁱ EUROPEAN BIOINFORMATICS INSTITUTE   (United Kingdom)

^j JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^k LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^l UNIVERSITY OF VERMONT COLLEGE OF MEDICINE   (United States)

^m NATIONAL CENTER FOR TOXICOLOGICAL RESEARCH   (United States)

ⁿ March of Dimes Birth Defects Foundation   (United States)

^o KAROLINSKA INSTITUTE   (Sweden)

^p UNIVERSITY OF MELBOURNE   (Australia)

^q NATIONAL INSTITUTES OF HEALTH   (United States)

^r St Josef Hospital   (Germany)

^s UNIVERSITY COLLEGE LONDON   (United Kingdom)

^t UNIVERSITY OF CAPE TOWN   (South Africa)

^u OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^v NATIONAL CANCER INSTITUTE   (United States)

^w INSTITUTO DE SALUD CARLOS III   (Spain)

^x UNIVERSITY OF UTAH   (United States)

^y ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^z UNIVERSITY OF TAMPERE   (Finland)

^aa Genomic Disorders Research Centre   (Australia)

more..

Author keywords

Genetic disease; Genomics; Mutation; Variation

Indexed keywords

ARTICLE; BIBLIOMETRICS; BREAST CANCER; CANCER GENETICS; COLORECTAL CANCER; CONFIDENTIALITY; FRANCE; FUNDING; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC DATABASE; GENETIC DISORDER; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEALTH CARE; HEALTH CARE ORGANIZATION; HUMAN; HUMAN GENOME; HUMAN GENOME PROJECT; HUMAN VARIOME PROJECT; MEDICAL ETHICS; MISMATCH REPAIR; NUTRIGENOMICS; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; PUBLICATION;

DATA COLLECTION; DATABASES, GENETIC; GENETIC VARIATION; GENOME, HUMAN; HUMANS; INDIVIDUALIZED MEDICINE; MOTIVATION; MUTATION; PARIS; SOFTWARE; TERMINOLOGY AS TOPIC; UNITED NATIONS;

EID: 78649620668     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21379     Document Type: Article

References (7)

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2. Cotton RG, Appelbe W, Auerbach AD, Becker K, Bodmer W, Boone DJ, Boulyjenkov V, Brahmachari S, Brody L, Brookes A, Brown AF, Byers P, Cantu JM, Cassiman JJ, Claustres M, Concannon P, Cotton RG, den Dunnen JT, Flicek P, Gibbs R, Hall J, Hasler J, Katz M, Kwok PY, Laradi S, Lindblom A, Maglott D, Marsh S, Masimirembwa CM, Minoshima S, de Ramirez HZ, Scriver CR, Sherry S, Shimizu N, Shimizu N, Stein L, Tadmouri GO, Taylor G, Watson M. 2007. Recommendations of the 2006 Human Variome Project Meeting. Nat Genet 39:433-436.
3. Cotton RGH, Auerbach AD, Beckmann JS, Blumenfeld OO, Brookes AJ, Brown AF, Carrera P, Cox DW, Gottlieb B, Greenblatt MS, Hilbert P, Lehvaslaiho H, Liang P, Marsh S, Nebert DW, Povey S, Rossetti S, Scriver CR, Summar M, Tolan DR, Verma IC, Vihinen M, den Dunnen JT. 2008. Recommendations for locus-specific databases and their curation. Hum Mutat 29:2-5.
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5. Kohonen-Corish M, Weber TK, Lindblom A, Macrae F; the Meeting Participants. 2010. Report of the Combined Meeting of the International Society for Gastrointestinal Hereditary Tumours, the Human Variome Project and the National Cancer Institute Colon Cancer Family Registry, Duesseldorf, Germany, 24 June 2009. Fam Cancer (in press).
6. Povey S, Al Aqeel AI, Cambon-Thomsen A, Dalgleish R, den Dunnen JT, Firth HV, Greenblatt MS, Isaacson Barash C, Parker M, Patrinos GP, Savige J, Sobrido M-J, Winship I, Cotton RGH. 2010. Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs). Hum Mutat 31 (in press).
7. Ring HZ, Kwok PY, Cotton RG. 2006. Human Variome Project: an international collaboration to catalogue human genetic variation. Pharmacogenomics 7:969-972.