Journal ArticleDOI
Large-Scale Identification, Mapping, and Genotyping of Single-Nucleotide Polymorphisms in the Human Genome
David G. Wang,Jian-Bing Fan,Jian-Bing Fan,Chia-Jen Siao,Chia-Jen Siao,Anthony Berno,Anthony Berno,Peter M. Young,Peter M. Young,Ron Sapolsky,Ron Sapolsky,Ghassan Ghandour,Ghassan Ghandour,Nancy Perkins,Nancy Perkins,Ellen Winchester,Ellen Winchester,Jessica B. Spencer,Jessica B. Spencer,Leonid Kruglyak,Leonid Kruglyak,Lincoln Stein,Lincoln Stein,Linda Hsie,Linda Hsie,Thodoros Topaloglou,Thodoros Topaloglou,Earl Hubbell,Earl Hubbell,Elizabeth M. Robinson,Elizabeth M. Robinson,Michael P. Mittmann,Michael P. Mittmann,Macdonald S. Morris,Macdonald S. Morris,Naiping Shen,Naiping Shen,Dan Kilburn,Dan Kilburn,John D. Rioux,John D. Rioux,Chad Nusbaum,Chad Nusbaum,Steve Rozen,Steve Rozen,Thomas J. Hudson,Thomas J. Hudson,Robert J. Lipshutz,Robert J. Lipshutz,Mark S. Chee,Mark S. Chee,Eric S. Lander,Eric S. Lander +52 more
TLDR
A large-scale survey for SNPs was examined by a combination of gel-based sequencing and high-density variation-detection DNA chips, and a genetic map was constructed showing the location of 2227 candidate SNPs.Abstract:
Single-nucleotide polymorphisms (SNPs) are the most frequent type of variation in the human genome, and they provide powerful tools for a variety of medical genetic studies. In a large-scale survey for SNPs, 2.3 megabases of human genomic DNA was examined by a combination of gel-based sequencing and high-density variation-detection DNA chips. A total of 3241 candidate SNPs were identified. A genetic map was constructed showing the location of 2227 of these SNPs. Prototype genotyping chips were developed that allow simultaneous genotyping of 500 SNPs. The results provide a characterization of human diversity at the nucleotide level and demonstrate the feasibility of large-scale identification of human SNPs.read more
Citations
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Journal ArticleDOI
Sequence variation in humans and other primates at six short tandem repeat loci used in forensic identity testing.
TL;DR: A large number of alleles from the six different short tandem repeat (STR) loci FGA, D3S1358, vWA, CSF1PO, TPOX and TH01, used in human identity testing were sequenced to provide support for the robustness of fluorescent STR DNA typing by allele size.
Journal ArticleDOI
Oligonucleotide Arrays for High-Throughput SNPs Detection in the MHC Class I Genes: HLA-B as a Model System
TL;DR: The oligonucleotide array method described in this paper provides unambiguous detection of complex heterozygous SNP combinations and may be applied to other highly polymorphic gene systems.
Journal ArticleDOI
Gene-based SNP discovery and genetic mapping in pea
Anoop Sindhu,Larissa Ramsay,Larissa Ramsay,Lacey-Anne Sanderson,Robert Stonehouse,Rong Li,Janet A. Condie,Arun S. K. Shunmugam,Yong Liu,Ambuj Bhushan Jha,Marwan Diapari,Judith Burstin,Grégoire Aubert,Bunyamin Tar’an,Kirstin E. Bett,Thomas D. Warkentin,Andrew G. Sharpe +16 more
TL;DR: The development of a genome-wide transcriptome-based pea single-nucleotide polymorphism (SNP) marker platform establishes a foundation for future molecular breeding efforts by enabling both the identification and tracking of introgression of genomic regions harbouring QTLs related to agronomic and seed quality traits.
Journal ArticleDOI
From SNPs to functional polymorphism: The insight into biotechnology applications
TL;DR: Large scale SNP studies represent an opportunity to apply new genome-scale technologies to address current limitations and questions relevant to the biotechnology community such as cell line generation and selection.
Journal ArticleDOI
Identification and Mapping of Single Nucleotide Polymorphisms in the Varicella-Zoster Virus Genome
TL;DR: It is postulated that a slowly coevolving VZV enome could be investigated by a similar genetic aproach as directed toward the human genome (Collins et l., 1998); the Human Genome Project has concentrated normous effort over the past 3 years on the identifica-
References
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Extensive polymorphisms observed in HIV–1 clade B protease gene using high–density oligonucleotide arrays
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Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colour fluorescence analysis.
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The use of a genetic map of biallelic markers in linkage studies
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