Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the Human Variome Project

Genetics in Medicine

Volumn 11, Issue 12, 2009, Pages 843-849

  Cotton, Richard G H ^a,b   Al Aqeel, Aida I ^c   Al Mulla, Fahd ^d   Carrera, Paola ^e   Claustres, Mireille ^f   Ekong, Rosemary ^g   Hyland, Valentine J ^h   MacRae, Finlay A ⁱ   Marafie, Makia J ^j   Paalman, Mark H ^k   Patrinos, George P ^l,m   Qi, Ming ^n,o   Ramesar, Rajkumar S ^p   Scott, Rodney J ^q   Sijmons, Rolf H ^r   Sobrido, María Jesús ^s,t   Vihinen, Mauno ^u,v  

^a Genomic Disorders Research Centre   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c Prince Sultan Military Medical City   (Saudi Arabia)

^d KUWAIT UNIVERSITY   (Kuwait)

^e SAN RAFFAELE HOSPITAL   (Italy)

^f UNIV MONTPELLIER   (France)

^g UNIVERSITY COLLEGE LONDON   (United Kingdom)

^h ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

ⁱ ROYAL MELBOURNE HOSPITAL   (Australia)

^j AL SABAH HOSPITAL   (Kuwait)

^k Wiley Associates   (United States)

^l UNIVERSITY OF PATRAS   (Greece)

^m ERASMUS MEDICAL CENTER   (Netherlands)

ⁿ ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

^o UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^p UNIVERSITY OF CAPE TOWN   (South Africa)

^q UNIVERSITY OF NEWCASTLE   (Australia)

^r UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^s Instituto de Investigación Sanitaria de Santiago de Compostela IDIS   (Spain)

^t CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^u UNIVERSITY OF TAMPERE   (Finland)

^v TAMPERE UNIVERSITY HOSPITAL   (Finland)

more..

Author keywords

Databases; Human Variome Project; Inherited disease; LSDB; Mutation

Indexed keywords

GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC VARIABILITY; HUMAN; MEDICAL RESEARCH; NOTE; PATHOGENESIS; PHENOTYPIC VARIATION; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 73849093160     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3181c371c5     Document Type: Note

References (17)

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