HGVbase: A curated resource describing human DNA variation and phenotype relationships

Nucleic Acids Research

Volumn 32, Issue DATABASE ISS., 2004, Pages

  Fredman, D ^b   Munns, G ^b   Rios, D ^b   Sjoholm F ^b   Siegfried, M ^b   Lenhard, B ^b   Lehvaslaiho H ^a   Brookes, Anthony ^b  

^a EUROPEAN BIOINFORMATICS INSTITUTE   (United Kingdom)

^b KAROLINSKA INSTITUTE   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ACCURACY; ARTICLE; BIOINFORMATICS; DNA SEQUENCE; GENE MAPPING; GENE STRUCTURE; GENETIC DATABASE; GENETIC DISORDER; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HEREDITY; HGVBASE; HUMAN; HUMAN GENOME; INFORMATION RETRIEVAL; MEDICAL RESEARCH; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

COMPUTATIONAL BIOLOGY; DATABASES, FACTUAL; DATABASES, GENETIC; GENOME, HUMAN; GENOMICS; HAPLOTYPES; HUMANS; INFORMATION STORAGE AND RETRIEVAL; INTERNET; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; USER-COMPUTER INTERFACE; VARIATION (GENETICS);

EID: 0346494815     PISSN: 03051048     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (17)

1. Sherry,S.T., Ward,M.H., Kholodov,M., Baker,J., Phan,L., Smigielski,E.M. and Sirotkin,K. (2001) dbSNP: the NCBI database of genetic variation. Nucleic Acids Res., 29, 308-311.
2. Wain,H.M., Bruford,E.A., Lovering,R.C., Lush,M.J., Wright,M.W. and Povey,S. (2002) Guidelines for human gene nomenclature. Genomics, 79, 464-470.
3. Hubbard,T., Barker,D., Birney,E., Cameron,G.,Chen,Y., Clark,L., Cox,T., Cuff,J., Curwen,V., Down,T. et al. (2002) The Ensembl genome database project. Nucleic Acids Res., 30, 38-41.
4. Ng,P.C. and Henikoff,S. (2003) SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res., 31, 3812-3814.
5. Ramensky,V., Bork,P. and Sunyaev,S. (2002) Human non-synonymous SNPs: server and survey. Nucleic Acids Res., 30, 3894-3900.
6. Gabriel,S.B., Schaffner,S.F., Nguyen,H., Moore,J.M., Roy,J., Blumenstiel,B., Higgins,J., DeFelice,M., Lochner,A., Faggart,M. et al. (2002) The structure of haplotype blocks in the human genome. Science, 296, 2225-2229.
7. Fredman,D., Siegfried,M., Yuan,Y.P., Bork,P., Lehvaslaiho,H. and Brookes,A.J. (2002) HGVbase: a human sequence variation database emphasizing data quality and a broad spectrum of data sources. Nucleic Acids Res., 30, 387-391.
8. Bailey,J.A., Gu,Z., Clark,R.A., Reinert,K., Samonte,R.V., Schwartz,S., Adams,M.D., Myers,E.W., Li,P.W. and Eichler,E.E. (2002) Recent segmental duplications in the human genome. Science, 297, 1003-1007.
9. Bedell,J.A., Korf,I. and Gish,W. (2000) MaskerAid: a performance enhancement to RepeatMasker. Bioinformatics, 16, 1040-1041.
10. Chen,L.Y., Lu,S.H., Shih,E.S. and Hwang,M.J. (2002) Single nucleotide polymorphism mapping using genome-wide unique sequences. Genome Res., 12, 1106-1111.
11. Pearson,W.R. (2000) Flexible sequence similarity searching with the FASTA3 program package. Methods Mol. Biol., 132, 185-219.
12. Zdobnov,E.M., Lopez,R., Apweiler,R. and Etzold,T. (2002) The FBI SRS server - new features. Bioinformatics, 18, 1149-1150.
13. Levene,M. and Loizou,G. (2003) Why is the snowflake schema a good data warehouse design? Inf. Syst., 28, 225-240.
14. Stajich,J.E., Block,D., Boulez,K., Brenner,S.E., Chervitz,S.A., Dagdigian,C., Fuellen,G., Gilbert,J.G., Korf,I., Lapp,H. et al. (2002) The BioPerl toolkit: Perl modules for the life sciences. Genome Res., 12, 1611-1618.
15. Kent,W.J. (2002) BLAT - the BLAST-like alignment tool. Genome Res., 12, 656-664.
16. Dowell,R.D., Jokerst,R.M., Day,A., Eddy,S.R. and Stein,L. (2001) The Distributed Annotation System. BMC Bioinformatics, 2, 7.
17. Wilkinson,M.D. and Links,M. (2002) BioMOBY: an open source biological web services proposal. Brief. Bioinform., 3, 331-341.