Recommendations for locus-speciific databases and their curation

被引：44

作者：

Cotton, R. G. H. ^{[1
]}

Auerbach, A. D. ^{[2
]}

Beckmann, J. S. ^{[3
,4
,5
]}

Blumenfeld, O. O. ^{[6
]}

Brookes, A. J. ^{[7
]}

Brown, A. F. ^{[8
]}

Carrera, P. ^{[9
]}

Cox, D. W. ^{[10
]}

Gottlieb, B. ^{[11
]}

Greenblatt, M. S. ^{[12
]}

Hilbert, P. ^{[13
]}

Lehvaslaiho, H. ^{[14
]}

Liang, P. ^{[15
]}

Marsh, S. ^{[16
]}

Nebert, D. W. ^{[17
]}

Povey, S. ^{[18
]}

Rossetti, S. ^{[19
]}

Scriver, C. R. ^{[20
]}

Summar, M. ^{[21
]}

Tolan, D. R. ^{[22
]}

Verma, I. C. ^{[23
]}

Vihinen, M. ^{[24
,25
]}

den Dunnen, J. T. ^{[26
]}

机构：

[1] St Vincents Hosp Melbourne, Genom Disorders Res Ctr, Fitzroy, Vic 3065, Australia

[2] Rockefeller Univ, Lab Human Genet & Hematol, New York, NY 10021 USA

[3] CHU Vaudois, Serv Med Genet, CH-1011 Lausanne, Switzerland

[4] CHU Vaudois, Dept Med Genet, CH-1011 Lausanne, Switzerland

[5] Univ Lausanne, Fac Med, Lausanne, Switzerland

[6] Albert Einstein Coll Med, Dept Biochem, New York, NY USA

[7] Univ Leicester, Dept Genet, Leicester LE1 7RH, Leics, England

[8] MRC, Human Genet Unit, Edinburgh, Midlothian, Scotland

[9] San Raffaele Sci Inst & Laboraf, Mol Biol Lab, Milan, Italy

[10] Univ Alberta, Dept Med Genet, Edmonton, AB, Canada

[11] Sir Mortimer B Davis Jewish Hosp, Lady Davis Inst Med Res, Montreal, PQ H3T 1E2, Canada

[12] Univ Vermont, Coll Med, Burlington, VT USA

[13] Inst Pathol Genet Mol Biol, Gosselies, Belgium

[14] Univ Western Cape, SANBI, Cape Town, South Africa

[15] Roswell Pk Canc Inst, Dept Canc Genet, Buffalo, NY 14263 USA

[16] Washington Univ, Div Oncol, St Louis, MO USA

[17] Univ Cincinnati, Med Ctr, Dept Environm Hlth, Cincinnati, OH 45267 USA

[18] UCL, Galton Lab, London, England

[19] Mayo Clin, Coll Med, Rochester, MN USA

[20] McGill Univ, Montreal Childrens Hosp, Res Inst, Montreal, PQ H3H 1P3, Canada

[21] Vanderbilt Univ, Ctr Human Genet Res, Nashville, TN USA

[22] Boston Univ, Dept Biol, Boston, MA 02215 USA

[23] Sir Ganga Ram Hosp, Dept Med Genet, New Delhi, India

[24] Univ Tampere, Inst Med Technol, FIN-33101 Tampere, Finland

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

[26] Leiden Univ, Med Ctr, Leiden, Netherlands

来源：

HUMAN MUTATION | 2008年 / 29卷 / 01期

关键词：

mutation; variome; database; curation; LSDB; bioinformatics;

D O I：

10.1002/humu.20650

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Expert curation and complete collection of mutations in genes that affect human health is essential for proper genetic healthcare and research. Expert curation is given by the curators of gene-specific mutation databases or locus-specific databases (LSDBs). While there are over 700 such databases, they vary in their content, completeness, time available for curation, and the expertise of the curator. Curation and LSDBs have been discussed, written about, and protocols have been provided for over 10 years, but there have been no formal recommendations for the ideal form of these entities. This work initiates a discussion on this topic to assist future efforts in human genetics. Further discussion is welcome.

引用

页码：2 / 5

页数：4

共 24 条

[1]

[Anonymous], 2007, NAT GENET, V39, P423

[2]

Béroud C, 2000, HUM MUTAT, V15, P86, DOI 10.1002/(SICI)1098-1004(200001)15:1<86::AID-HUMU16>3.0.CO

[3]

2-4

[4] Allelic genes of blood group antigens: A source of human mutations and cSNPs documented in the blood group antigen gene mutation database [J].

Blumenfeld, OO ;

Patnaik, SK .

HUMAN MUTATION, 2004, 23 (01) :8-16

[5] Time for a unified system of mutation description and reporting: A review of locus-specific mutation Databases [J].

Claustres, M ;

Horaitis, O ;

Vanevski, M ;

Cotton, RGH .

GENOME RESEARCH, 2002, 12 (05) :680-688

[6] Toward a Human Variome Project [J].

Cotton, RGH ;

Kazazian, HH .

HUMAN MUTATION, 2005, 26 (06) :499-499

[7]

Cotton RGH, 2000, HUM MUTAT, V15, P4, DOI 10.1002/(SICI)1098-1004(200001)15:1<4::AID-HUMU3>3.0.CO

[8]

2-T

[9] A survey of locus-specific database curation [J].

Cotton, Richard G. H. ;

Phillips, Kate ;

Horaitis, Ourania .

JOURNAL OF MEDICAL GENETICS, 2007, 44 (04)

[10] Recommendations of the 2006 Human Variome Project meeting [J].

Cotton, Richard G. H. .

NATURE GENETICS, 2007, 39 (04) :433-436

← 1 2 3 →