Literature DB >> 9447590

DNA variation and the future of human genetics.

A J Schafer1, J R Hawkins.   

Abstract

The use of DNA variants in the mapping of the human genome and in the positional cloning of monogenic disease genes is well established. Determining the genetic bases of the more common "multifactorial" diseases, however, presents a major challenge. The genetics of these diseases are complicated by the interplay between many genes and the environment. These investigations will require large numbers of DNA markers and the technology to screen large populations with these markers. The systematic identification of the common DNA polymorphisms in the human genome coupled with the development of high throughput screening methods should allow ultimately the elucidation of the genetic component of most clinical and nonclinical phenotypes.

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Year:  1998        PMID: 9447590     DOI: 10.1038/nbt0198-33

Source DB:  PubMed          Journal:  Nat Biotechnol        ISSN: 1087-0156            Impact factor:   54.908


  25 in total

1.  Homogeneous assays for single-nucleotide polymorphism typing using AlphaScreen.

Authors:  L Beaudet; J Bédard; B Breton; R J Mercuri; M L Budarf
Journal:  Genome Res       Date:  2001-04       Impact factor: 9.043

2.  A meeting at the gene. Biodiversity and natural history.

Authors:  W Martin; F Salamini
Journal:  EMBO Rep       Date:  2000-09       Impact factor: 8.807

3.  Isolation and analysis of amplified cDNA fragments during detection of unknown polymorphisms with temperature modulated heteroduplex chromatography.

Authors:  A Kuklin; K Munson; P Taylor; D Gjerde
Journal:  Mol Biotechnol       Date:  1999-06       Impact factor: 2.695

4.  Full flexibility genotyping of single nucleotide polymorphisms by the GOOD assay.

Authors:  S Sauer; D Lechner; K Berlin; C Plançon; A Heuermann; H Lehrach; I G Gut
Journal:  Nucleic Acids Res       Date:  2000-12-01       Impact factor: 16.971

5.  A system for specific, high-throughput genotyping by allele-specific primer extension on microarrays.

Authors:  T Pastinen; M Raitio; K Lindroos; P Tainola; L Peltonen; A C Syvänen
Journal:  Genome Res       Date:  2000-07       Impact factor: 9.043

6.  Determination of single-nucleotide polymorphisms by real-time pyrophosphate DNA sequencing.

Authors:  A Alderborn; A Kristofferson; U Hammerling
Journal:  Genome Res       Date:  2000-08       Impact factor: 9.043

7.  Direct sequencing of bacterial and P1 artificial chromosome-nested deletions for identifying position-specific single-nucleotide polymorphisms.

Authors:  P K Chatterjee; D P Yarnall; S A Haneline; M M Godlevski; S J Thornber; P S Robinson; H E Davies; N J White; J H Riley; N S Shepherd
Journal:  Proc Natl Acad Sci U S A       Date:  1999-11-09       Impact factor: 11.205

8.  Direct genetic analysis by matrix-assisted laser desorption/ionization mass spectrometry.

Authors:  T J Griffin; J G Hall; J R Prudent; L M Smith
Journal:  Proc Natl Acad Sci U S A       Date:  1999-05-25       Impact factor: 11.205

9.  Primer-design for multiplexed genotyping.

Authors:  Lars Kaderali; Alina Deshpande; John P Nolan; P Scott White
Journal:  Nucleic Acids Res       Date:  2003-03-15       Impact factor: 16.971

10.  Single nucleotide polymorphism mapping using genome-wide unique sequences.

Authors:  Leslie Y Y Chen; Szu-Hsien Lu; Edward S C Shih; Ming-Jing Hwang
Journal:  Genome Res       Date:  2002-07       Impact factor: 9.043

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