-
1
-
-
0342545408
-
UMD (universal mutation database): A generic software to build and analyze locus-specific databases
-
Béroud C, Collod-Béroud G, Boileau C, Soussi T, Junien C. 2000. UMD (universal mutation database): a generic software to build and analyze locus-specific databases. Hum Mutat 15:86-94.
-
(2000)
Hum Mutat
, vol.15
, pp. 86-94
-
-
Béroud, C.1
Collod-Béroud, G.2
Boileau, C.3
Soussi, T.4
Junien, C.5
-
2
-
-
0033621781
-
MuStaR and other software for locus-specific databases
-
Brown AF, McKie MA. 2000. MuStaR and other software for locus-specific databases. Hum Mut 15:76-85.
-
(2000)
Hum Mut
, vol.15
, pp. 76-85
-
-
Brown, A.F.1
McKie, M.A.2
-
3
-
-
0036107052
-
Time for a unified system of mutation description and reporting: A review of locus-specific mutation databases
-
Claustres M, Horaitis O, Vanevski M, Cotton RGH. 2002. Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases. Genome Res 12:680-688.
-
(2002)
Genome Res
, vol.12
, pp. 680-688
-
-
Claustres, M.1
Horaitis, O.2
Vanevski, M.3
Cotton, R.G.H.4
-
4
-
-
0033987736
-
Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
-
Den Dunnen JT, Antonarakis SE. 2000. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7-12.
-
(2000)
Hum Mutat
, vol.15
, pp. 7-12
-
-
Den Dunnen, J.T.1
Antonarakis, S.E.2
-
5
-
-
0346494815
-
HGVbase: A curated resource describing human DNA variation and phenotype relationships
-
Fredman D, Munns G, Rios D, Sjoholm F, Siegfried M, Lenhard B, Lehvaslaiho H, Brookes AJ. 2004. HGVbase: a curated resource describing human DNA variation and phenotype relationships. Nucl Acids Res 32:D516-D519.
-
(2004)
Nucl Acids Res
, vol.32
-
-
Fredman, D.1
Munns, G.2
Rios, D.3
Sjoholm, F.4
Siegfried, M.5
Lenhard, B.6
Lehvaslaiho, H.7
Brookes, A.J.8
-
6
-
-
13444266370
-
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
-
Hamosh A, Scott AF, Amberger JS, Bocchini CA, McKusick VA. 2005. Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucl Acids Res 33:D514-D517.
-
(2005)
Nucl Acids Res
, vol.33
-
-
Hamosh, A.1
Scott, A.F.2
Amberger, J.S.3
Bocchini, C.A.4
McKusick, V.A.5
-
7
-
-
2342507856
-
The challenge of documenting mutation across the genome: The Human Genome Variation Society approach
-
Horaitis O, Cotton RGH. 2004. The challenge of documenting mutation across the genome: the Human Genome Variation Society approach. Hum Mutat 23:447-452.
-
(2004)
Hum Mutat
, vol.23
, pp. 447-452
-
-
Horaitis, O.1
Cotton, R.G.H.2
-
8
-
-
33444460735
-
Mutation View: An integrated knowledge base for mutations and polymorphisms in human disease genes-automated extraction of disease-associated knowledge
-
Gribskov M, Kanehisa M, Miyano S, Takagi T, editors. Tokyo: Universal Academy Press, Inc.
-
Ohtsubo M, Mitsuyama S, Kawamura T, Shimizu N, Minoshima S. 2003. Mutation View: an integrated knowledge base for mutations and polymorphisms in human disease genes-automated extraction of disease-associated knowledge. In: Gribskov M, Kanehisa M, Miyano S, Takagi T, editors. Genome informatics. Tokyo: Universal Academy Press, Inc. p 284-285.
-
(2003)
Genome Informatics
, pp. 284-285
-
-
Ohtsubo, M.1
Mitsuyama, S.2
Kawamura, T.3
Shimizu, N.4
Minoshima, S.5
-
9
-
-
0033400946
-
MUTbase: Maintenance and analysis of distributed mutation databases
-
Riikonen P, Vihinen M. 1999. MUTbase: maintenance and analysis of distributed mutation databases. Bioinformatics 15:852-859.
-
(1999)
Bioinformatics
, vol.15
, pp. 852-859
-
-
Riikonen, P.1
Vihinen, M.2
-
10
-
-
0032934746
-
Guidelines and recommendations for content, structure, and deployment of mutation databases
-
Scriver CR, Nowacki PM, Lehväslaiho H. 1999. Guidelines and recommendations for content, structure, and deployment of mutation databases. Hum Mutat 13:344-350.
-
(1999)
Hum Mutat
, vol.13
, pp. 344-350
-
-
Scriver, C.R.1
Nowacki, P.M.2
Lehväslaiho, H.3
-
11
-
-
0033986099
-
Guidelines and recommendations for content, structure, and deployment of mutation databases: II. Journey in progress
-
Scriver CR. 2000. Guidelines and recommendations for content, structure, and deployment of mutation databases: II. Journey in progress. Hum Mutat 15:13-15.
-
(2000)
Hum Mutat
, vol.15
, pp. 13-15
-
-
Scriver, C.R.1
-
12
-
-
0035173378
-
dbSNP: The NCBI database of genetic variation
-
Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, Smigielski EM, Sirotkin K. 2001. dbSNP: the NCBI database of genetic variation. Nuc Acids Res 29:308-311.
-
(2001)
Nuc Acids Res
, vol.29
, pp. 308-311
-
-
Sherry, S.T.1
Ward, M.H.2
Kholodov, M.3
Baker, J.4
Phan, L.5
Smigielski, E.M.6
Sirotkin, K.7
-
13
-
-
0037903275
-
The Human Gene Mutation Database (HGMD®): 2003 Update
-
Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NS, Abeysinghe S, Krawczak M, Cooper DN. 2003. The Human Gene Mutation Database (HGMD®): 2003 Update. Hum Mutat 21:577-581.
-
(2003)
Hum Mutat
, vol.21
, pp. 577-581
-
-
Stenson, P.D.1
Ball, E.V.2
Mort, M.3
Phillips, A.D.4
Shiel, J.A.5
Thomas, N.S.6
Abeysinghe, S.7
Krawczak, M.8
Cooper, D.N.9
|