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Journal ArticleDOI

Accessing genetic variation: genotyping single nucleotide polymorphisms

Ann-Christine Syvänen
- 01 Dec 2001 - 
- Vol. 2, Iss: 12, pp 930-942
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TLDR
The hope that single nucleotide polymorphisms will allow genes that underlie complex disease to be identified, together with progress in identifying large sets ofSNPs, are the driving forces behind intense efforts to establish the technology for large-scale analysis of SNPs.
Abstract
Understanding the relationship between genetic variation and biological function on a genomic scale is expected to provide fundamental new insights into the biology, evolution and pathophysiology of humans and other species. The hope that single nucleotide polymorphisms (SNPs) will allow genes that underlie complex disease to be identified, together with progress in identifying large sets of SNPs, are the driving forces behind intense efforts to establish the technology for large-scale analysis of SNPs. New genotyping methods that are high throughput, accurate and cheap are urgently needed for gaining full access to the abundant genetic variation of organisms.

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Citations
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Journal ArticleDOI

The possibility of a valuable resource of circulating DNA for single nucleotide polymorphisms genotyping: the application of a rapid and simple polymerase chain reaction with melting curve analysis for methyltetrahydrofolate reductase polymorphisms.

TL;DR: The aim of the present project was to evaluate the integrity of circulating DNA and to investigate whether such DNA is practically tolerable for genotyping single nucleotide polymorphisms (SNP) of methyltetrahydrofolate reductase (MTHFR).
Book ChapterDOI

Hormones, Stress and Depression

TL;DR: Chronic elevated levels of circulating corticosteroid hormones are believed to enhance vulnerability to a variety of diseases, including human affective disorders.
Dissertation

Grapevine acidity: SVM tool development and NGS data analyses

TL;DR: Goal of this thesis work is the development of a bioinformatic method that classifies variant calling outputs in order to reduce the number of false positive calls, and the machine learning method efficiently recognized true positive from false positive variants in both genomic and transcriptomic sequences.
Book ChapterDOI

Chapter 2 – Molecular Markers

TL;DR: The analysis of DNA polymorphism has become an area of active research in major agronomic species and model plants as mentioned in this paper, and molecular markers defined in this context have proven to be useful in plant breeding and in increasing our understanding of crop domestication, plant evolution, and the genetic mechanisms involved in agronomical traits.
Dissertation

Machine Learning to Interrogate High-throughput Genomic Data: Theory and Applications

Guoqiang Yu, +1 more
TL;DR: This work proposes a novel statistically-based framework (Significant Conditional Association) for systematically exploring, assessing significance, and detecting interaction effect, and shows that the new approach has detection power significantly better than that of peer methods, while controlling the running time within a permissible range.
References
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Journal ArticleDOI

DNA sequencing with chain-terminating inhibitors

TL;DR: A new method for determining nucleotide sequences in DNA is described, which makes use of the 2',3'-dideoxy and arabinon nucleoside analogues of the normal deoxynucleoside triphosphates, which act as specific chain-terminating inhibitors of DNA polymerase.
Journal ArticleDOI

Initial sequencing and analysis of the human genome.

Eric S. Lander, +248 more
- 15 Feb 2001 - 
TL;DR: The results of an international collaboration to produce and make freely available a draft sequence of the human genome are reported and an initial analysis is presented, describing some of the insights that can be gleaned from the sequence.
Journal ArticleDOI

The sequence of the human genome.

J. Craig Venter, +272 more
- 16 Feb 2001 - 
TL;DR: Comparative genomic analysis indicates vertebrate expansions of genes associated with neuronal function, with tissue-specific developmental regulation, and with the hemostasis and immune systems are indicated.
Journal ArticleDOI

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia.

TL;DR: Two new methods were used to establish a rapid and highly sensitive prenatal diagnostic test for sickle cell anemia, using primer-mediated enzymatic amplification of specific beta-globin target sequences in genomic DNA, resulting in the exponential increase of target DNA copies.
Book ChapterDOI

Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction.

TL;DR: A method whereby a nucleic acid sequence can be exponentially amplified in vitro is described in the chapter, and the possibility of utilizing a heat-stable DNA polymerase is explored so as to avoid the need for addition of new enzyme after each cycle of thermal denaturation.
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The sequence of the human genome.

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Initial sequencing and analysis of the human genome.

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