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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Theoretical aspects of genomic variation screening using DNA microarrays.
TL;DR: The adsorption isotherm expressing the on-array hybridization efficiency in terms of genomic target sequence and concentration, oligonucleotide probe sequence and surface density, hybridization buffer, and temperature correctly describes the surface probe density effects, the sensitivity peak, and the melting temperature depression, and is in accord with published experiments.
Journal ArticleDOI
High SNP density in the blacklegged tick, Ixodes scapularis, the principal vector of Lyme disease spirochetes.
TL;DR: First estimates of SNP distribution and density in the genome of the blacklegged tick (Ixodes scapularis), an important vector of the pathogens causing Lyme disease, human granulocytic anaplasmosis and human babesiosis in North America, are reported.
Journal ArticleDOI
High-throughput single-nucleotide polymorphism genotyping by fluorescent competitive allele-specific polymerase chain reaction (SNiPTag).
TL;DR: A method for their rapid analysis based on an allele-specific polymerase chain reaction (PCR) which employs a competitive approach, whereby both allele- specific primers are present in the same reaction and carry different fluorescent labels.
Journal ArticleDOI
A second generation SNP and SSR integrated linkage map and QTL mapping for the Chinese mitten crab Eriocheir sinensis.
Gao Feng Qiu,Liang Wei Xiong,Zhi Ke Han,Zhi-Qiang Liu,Jian Bin Feng,Xu Gan Wu,Yin Long Yan,Hong Shen,Long Huang,Li Chen +9 more
TL;DR: The recently developed specific-locus amplified fragment sequencing method for large-scale SNPs screening and genotyping in a F1 full-sib family of 149 individuals generated 127,677 polymorphic SNP markers, of which 20,803 valid markers were assigned into five segregation types and were used together with previous SSR markers for linkage map construction.
Journal ArticleDOI
Phenotype-driven genetic approaches in mice: high-throughput phenotyping for discovering new models of cardiovascular disease.
Brian D. Hoit,Joseph H. Nadeau +1 more
TL;DR: Insights into the genetic control of cardiovascular diseases could lead to improved diagnosis and treatment as well as a deeper understanding of basic physiological processes.
References
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Ann Maria Caviani Pease,Dennis W. Solas,Edward Sullivan,Maureen T. Cronin,Christopher P. Holmes,Stephen P. A. Fodor +5 more
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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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Journal ArticleDOI
The use of a genetic map of biallelic markers in linkage studies
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