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
Analysis of human triallelic SNPs by next-generation sequencing.
TL;DR: Exome sequencing data from 221 Chinese individuals was explored and it was revealed that the variant alleles were more likely to result in nonsynonymous variation at triallelic sites, and natural selection seemed to influencetriallelic SNPs.
Journal ArticleDOI
Large-scale copy number variants (CNVs): Distribution in normal subjects and FISH/real-time qPCR analysis
Ying Qiao,Xudong Liu,Chansonette Harvard,Sarah L. Nolin,W. Ted Brown,Maryam Koochek,Jeanette J. A. Holden,M. E. Suzanne Lewis,Evica Rajcan-Separovic +8 more
TL;DR: 16 novel CNVs are described in 27 normal individuals using commercially available 1 Mb resolution BAC array and further study of a small selection of CNVs indicated concordant and discordant array vs. FISH/RT-qPCR results.
Journal ArticleDOI
Development of a single nucleotide polymorphism map of porcine chromosome 2.
B.J. Jungerius,A.P. Rattink,Richard P. M. A. Crooijmans,J.J. van der Poel,B.A. van Oost,M.F.W. te Pas,Martien A. M. Groenen +6 more
TL;DR: Because many of the experimental populations to identify QTL are based on crosses between these breeds, these SNPs are relevant for the fine mapping of the QTL identified within these crosses.
Journal ArticleDOI
Haplotyping with missing data via perfect path phylogenies
TL;DR: This work introduces a variant of haplotyping via perfect phylogeny in which a path phylogeny is sought and presents a simple linear-time algorithm for the problem on complete data.
Journal ArticleDOI
Molecular approaches in the study of Biomphalaria glabrata – Schistosoma mansoni interactions: linkage analysis and gene expression profiling
TL;DR: The application of current and emergent technologies to gene characterization and linkage analysis in snail–schistosome interactions is discussed and preliminary results from the analysis of comparative gene expression in resistant and susceptible snails are presented.
References
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An STS-Based Map of the Human Genome
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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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