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

被引：30

作者：

Cotton, Richard G. H. ^{[1
,2
]}

Al Aqeel, Aida I. ^{[3
]}

Al-Mulla, Fahd ^{[4
]}

Carrera, Paola ^{[5
]}

Claustres, Mireille ^{[6
,7
]}

Ekong, Rosemary ^{[8
]}

Hyland, Valentine J. ^{[9
]}

Macrae, Finlay A. ^{[10
]}

Marafie, Makia J. ^{[11
]}

Paalman, Mark H. ^{[12
]}

Patrinos, George P. ^{[13
,14
]}

Qi, Ming ^{[15
,16
]}

Ramesar, Rajkumar S. ^{[17
]}

Scott, Rodney J. ^{[18
]}

Sijmons, Rolf H. ^{[19
]}

Sobrido, Maria-Jesus ^{[20
,21
]}

Vihinen, Mauno ^{[22
,23
]}

机构：

[1] Genom Disorders Res Ctr, Melbourne, Vic 3053, Australia

[2] Univ Melbourne, Dept Med Dent & Hlth Sci, Parkville, Vic 3052, Australia

[3] Riyadh Mil Hosp, Dept Paediat, Riyadh, Saudi Arabia

[4] Kuwait Univ, Mol Pathol Unit, Fac Med, Safat, Kuwait

[5] San Raffaele Sci Inst Dibit 2, Unit Genom Diagnost Human Dis & Laboraf, Milan, Italy

[6] Univ Montpellier I, Fac Med, Montpellier, France

[7] CHU Montpellier, Genet Mol Lab, IURC, Montpellier, France

[8] UCL, Dept Genet Evolut & Environm, London, England

[9] QHPS Cent Lab, Mol Genet Lab, Herston, Qld, Australia

[10] Royal Melbourne Hosp, Dept Colorectal Med & Genet, Parkville, Vic 3050, Australia

[11] Matern Hosp, Dept Clin Genet, Kuwait Med Genet Ctr, Sabah Med Area, Kuwait, Kuwait

[12] Wiley Blackwell, Human Mutat, Hoboken, NJ USA

[13] Univ Patras, Dept Pharm, Sch Hlth Sci, Patras, Greece

[14] Erasmus Univ, Fac Med & Hlth Sci, Dept Bioinformat, Med Ctr, NL-3000 DR Rotterdam, Netherlands

[15] Zhejiang Univ, Sch Med, Affiliated Hosp 1,ADINOVO Ctr Genet & Genom Med, James Watson Inst Genom Sci,Beijing Genome Inst, Hangzhou 310003, Zhejiang, Peoples R China

[16] Univ Rochester, Med Ctr, Cardiovasc Res Ctr, New York, NY USA

[17] Univ Cape Town, Dept Human Genet, Inst Infect Dis & Mol Med, Observ Western Cape Prov, ZA-7700 Rondebosch, South Africa

[18] Univ Newcastle, Fac Hlth, Discipline Med Genet, Newcastle, NSW 2308, Australia

[19] Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9713 AV Groningen, Netherlands

[20] Fdn Publ Galega Med Xenom, Santiago De Compostela, Spain

[21] Ctr Network Biomed Res Rare Dis CIBERER, Inst Hlth Carlos 3, Madrid, Spain

[22] Univ Tampere, Inst Med Technol, Bioinformat Grp, FIN-33101 Tampere, Finland

[23] Tampere Univ Hosp, Res Unit, Tampere, Finland

来源：

GENETICS IN MEDICINE | 2009年 / 11卷 / 12期

关键词：

mutation; LSDB; Human Variome Project; inherited disease databases; DATABASE; DISORDERS;

D O I：

10.1097/GIM.0b013e3181c371c5

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The collection of genetic variants that cause inherited disease (causative mutation) has occurred for decades albeit in an ad hoc way, for research and clinical purposes. More recently, the access to collections of mutations causing specific diseases has become essential for appropriate genetic health care. Because information has accumulated, it has become apparent that there are many gaps in our ability to correctly annotate all the changes that are being identified at ever increasing rates. The Human Variome Project (www.humanvariomeproject.org) was initiated to facilitate integrated and systematic collection and access to this data. This manuscript discusses how collection Of Such data may be facilitated through new software and strategies in the clinical genetics and diagnostic laboratory communities. Genet Med 2009:11(12):843-849.

引用

页码：843 / 849

页数：7

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