Literature DB >> 10395891

The essence of SNPs.

A J Brookes1.   

Abstract

Single nucleotide polymorphisms (SNPs) are an abundant form of genome variation, distinguished from rare variations by a requirement for the least abundant allele to have a frequency of 1% or more. A wide range of genetics disciplines stand to benefit greatly from the study and use of SNPs. The recent surge of interest in SNPs stems from, and continues to depend upon, the merging and coincident maturation of several research areas, i.e. (i) large-scale genome analysis and related technologies, (ii) bio-informatics and computing, (iii) genetic analysis of simple and complex disease states, and (iv) global human population genetics. These fields will now be propelled forward, often into uncharted territories, by ongoing discovery efforts that promise to yield hundreds of thousands of human SNPs in the next few years. Major questions are now being asked, experimentally, theoretically and ethically, about the most effective ways to unlock the full potential of the upcoming SNP revolution.

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Year:  1999        PMID: 10395891     DOI: 10.1016/s0378-1119(99)00219-x

Source DB:  PubMed          Journal:  Gene        ISSN: 0378-1119            Impact factor:   3.688


  261 in total

1.  Long-range comparison of human and mouse SCL loci: localized regions of sensitivity to restriction endonucleases correspond precisely with peaks of conserved noncoding sequences.

Authors:  B Göttgens; J G Gilbert; L M Barton; D Grafham; J Rogers; D R Bentley; A R Green
Journal:  Genome Res       Date:  2001-01       Impact factor: 9.043

2.  Robust and accurate single nucleotide polymorphism genotyping by dynamic allele-specific hybridization (DASH): design criteria and assay validation.

Authors:  J A Prince; L Feuk; W M Howell; M Jobs; T Emahazion; K Blennow; A J Brookes
Journal:  Genome Res       Date:  2001-01       Impact factor: 9.043

3.  A cSNP map and database for human chromosome 21.

Authors:  S Deutsch; C Iseli; P Bucher; S E Antonarakis; H S Scott
Journal:  Genome Res       Date:  2001-02       Impact factor: 9.043

4.  Cloning of polymorphisms (COP): enrichment of polymorphic sequences from complex genomes.

Authors:  J Li; F Wang; V Zabarovska; C Wahlestedt; E R Zabarovsky
Journal:  Nucleic Acids Res       Date:  2000-01-15       Impact factor: 16.971

5.  High-throughput SNP allele-frequency determination in pooled DNA samples by kinetic PCR.

Authors:  S Germer; M J Holland; R Higuchi
Journal:  Genome Res       Date:  2000-02       Impact factor: 9.043

6.  L-RCA (ligation-rolling circle amplification): a general method for genotyping of single nucleotide polymorphisms (SNPs).

Authors:  X Qi; S Bakht; K M Devos; M D Gale; A Osbourn
Journal:  Nucleic Acids Res       Date:  2001-11-15       Impact factor: 16.971

7.  Single tube genotyping of sickle cell anaemia using PCR-based SNP analysis.

Authors:  C M Waterfall; B D Cobb
Journal:  Nucleic Acids Res       Date:  2001-12-01       Impact factor: 16.971

8.  Rapid characterization of DNA oligomers and genotyping of single nucleotide polymorphism using nucleotide-specific mass tags.

Authors:  F Abdi; E M Bradbury; N Doggett; X Chen
Journal:  Nucleic Acids Res       Date:  2001-07-01       Impact factor: 16.971

9.  Assessing the cost-effectiveness of pharmacogenomics.

Authors:  D L Veenstra; M K Higashi; K A Phillips
Journal:  AAPS PharmSci       Date:  2000

10.  A web-based tool to retrieve human genome polymorphisms from public databases.

Authors:  A Riva; I S Kohane
Journal:  Proc AMIA Symp       Date:  2001
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