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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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Metallo-intercalators and metallo-insertors

TL;DR: Recent experiments in the laboratory aimed at the design and study of octahedral metal complexes that bind DNA non-covalently and target reactions to specific sites are reviewed.
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Genetics and geography of wild cereal domestication in the near east

TL;DR: A better understanding of the genetic differences between wild grasses and domesticated crops adds important facets to the continuing debate on the origin of Western agriculture and the societies to which it gave rise.
Journal ArticleDOI

Highly parallel SNP genotyping.

TL;DR: An integrated SNP genotyping system that combines a highly multiplexed assay with an accurate readout technology based on random arrays of DNA-coated beads is developed that helps enable genome-wide association studies and other large-scale genetic analysis projects.
Journal ArticleDOI

Multiplexed genotyping with sequence-tagged molecular inversion probes

TL;DR: The development of molecular inversion probe (MIP) genotyping is reported on, an efficient technology for large-scale single nucleotide polymorphism (SNP) analysis and multiplex analysis of more than 1,000 probes in a single tube can be done using standard laboratory equipment.
Journal ArticleDOI

DNA sequence and analysis of human chromosome 9

Andrew J. Mungall, +170 more
- 23 Oct 2003 - 
TL;DR: Analysis of the sequence reveals many intra- and interchromosomal duplications, including segmental duplications adjacent to both the centromere and the large heterochromatic block, and detects recently duplicated genes that exhibit different rates of sequence divergence, presumably reflecting natural selection.
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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