Literature DB >> 18628874

SNP and mutation data on the web - hidden treasures for uncovering.

Michael R Barnes1.   

Abstract

SNP data has grown exponentially over the last two years, SNP database evolution has matched this growth, as initial development of several independent SNP databases has given way to one central SNP database, dbSNP. Other SNP databases have instead evolved to complement this central database by providing gene specific focus and an increased level of curation and analysis on subsets of data, derived from the central data set. By contrast, human mutation data, which has been collected over many years, is still stored in disparate sources, although moves are afoot to move to a similar central database. These developments are timely, human mutation and polymorphism data both hold complementary keys to a better understanding of how genes function and malfunction in disease. The impending availability of a complete human genome presents us with an ideal framework to integrate both these forms of data, as our understanding of the mechanisms of disease increase, the full genomic context of variation may become increasingly significant.

Entities:  

Year:  2002        PMID: 18628874      PMCID: PMC2447234          DOI: 10.1002/cfg.131

Source DB:  PubMed          Journal:  Comp Funct Genomics        ISSN: 1531-6912


  13 in total

1.  A general approach to single-nucleotide polymorphism discovery.

Authors:  G T Marth; I Korf; M D Yandell; R T Yeh; Z Gu; H Zakeri; N O Stitziel; L Hillier; P Y Kwok; W R Gish
Journal:  Nat Genet       Date:  1999-12       Impact factor: 38.330

2.  Single-nucleotide polymorphisms in the public domain: how useful are they?

Authors:  G Marth; R Yeh; M Minton; R Donaldson; Q Li; S Duan; R Davenport; R D Miller; P Y Kwok
Journal:  Nat Genet       Date:  2001-04       Impact factor: 38.330

3.  PicSNP: a browsable catalog of nonsynonymous single nucleotide polymorphisms in the human genome.

Authors:  H Chang; T Fujita
Journal:  Biochem Biophys Res Commun       Date:  2001-09-14       Impact factor: 3.575

4.  Linkage disequilibrium in the human genome.

Authors:  D E Reich; M Cargill; S Bolk; J Ireland; P C Sabeti; D J Richter; T Lavery; R Kouyoumjian; S F Farhadian; R Ward; E S Lander
Journal:  Nature       Date:  2001-05-10       Impact factor: 49.962

5.  Future vision of the GDB human genome database.

Authors:  A J Cuticchia
Journal:  Hum Mutat       Date:  2000       Impact factor: 4.878

6.  Online Mendelian Inheritance in Man (OMIM).

Authors:  A Hamosh; A F Scott; J Amberger; D Valle; V A McKusick
Journal:  Hum Mutat       Date:  2000       Impact factor: 4.878

Review 7.  Genome and genetic resources from the Cancer Genome Anatomy Project.

Authors:  G J Riggins; R L Strausberg
Journal:  Hum Mol Genet       Date:  2001-04       Impact factor: 6.150

Review 8.  Searching for genetic determinants in the new millennium.

Authors:  N J Risch
Journal:  Nature       Date:  2000-06-15       Impact factor: 49.962

9.  Detecting conserved regulatory elements with the model genome of the Japanese puffer fish, Fugu rubripes.

Authors:  S Aparicio; A Morrison; A Gould; J Gilthorpe; C Chaudhuri; P Rigby; R Krumlauf; S Brenner
Journal:  Proc Natl Acad Sci U S A       Date:  1995-02-28       Impact factor: 11.205

10.  Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease.

Authors:  L A Kluijtmans; L P van den Heuvel; G H Boers; P Frosst; E M Stevens; B A van Oost; M den Heijer; F J Trijbels; R Rozen; H J Blom
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

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  2 in total

1.  Sirtuin1 single nucleotide polymorphism (A2191G) is a diagnostic marker for vibration-induced white finger disease.

Authors:  Susanne Voelter-Mahlknecht; Bernd Rossbach; Christina Schleithoff; Christian L Dransfeld; Stephan Letzel; Ulrich Mahlknecht
Journal:  Clin Epigenetics       Date:  2012-10-01       Impact factor: 6.551

Review 2.  Effects of Lipopolysaccharide-Binding Protein (LBP) Single Nucleotide Polymorphism (SNP) in Infections, Inflammatory Diseases, Metabolic Disorders and Cancers.

Authors:  Leilei Meng; Zichen Song; Anding Liu; Uta Dahmen; Xiao Yang; Haoshu Fang
Journal:  Front Immunol       Date:  2021-07-06       Impact factor: 7.561

  2 in total

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