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Mining SNPs From EST Databases

Open access
Picoult-Newberg, Leslie, Ideker, Trey E., Pohl, Mark G., Taylor, Scott L., Donaldson, Miriam A., Nickerson, Deborah A., Boyce-Jacino, Michael·1999·Genome Research

Abstract

There is considerable interest in the discovery and characterization of single nucleotide polymorphisms (SNPs) to enable the analysis of the potential relationships between human genotype and phenotype. Here we present a strategy that permits the rapid discovery of SNPs from publicly available expressed sequence tag (EST) databases. From a set of ESTs derived from 19 different cDNA libraries, we assembled 300,000 distinct sequences and identified 850 mismatches from contiguous EST data sets (candidate SNP sites), without de novo sequencing. Through a polymerase-mediated, single-base, primer extension technique, Genetic Bit Analysis (GBA), we confirmed the presence of a subset of these candidate SNP sites and have estimated the allele frequencies in three human populations with different ethnic origins. Altogether, our approach provides a basis for rapid and efficient regional and genome-wide SNP discovery using data assembled from sequences from different libraries of cDNAs. [The SNPs identified in this study can be found in the National Center of Biotechnology (NCBI) SNP database under submitter handles ORCHID (SNPS-981210-A) and debnick (SNPS-981209-A and SNPS-981209-B).]

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Metadata

Authors
Picoult-Newberg, L., Ideker, T. E., Pohl, M. G., Taylor, S. L., Donaldson, M. A., Nickerson, D. A., & Boyce-Jacino, M.
Venue
Genome Research
Published
1999-02-01
Volume
9
Issue
2
Pages
167-174
ISSN
  • 1088-9051 (ISSN-L)
  • 1549-5469
OpenAlex
W2125439994
Cited by
331
References
34
Type
posted content
Language
en
Open access
bronze

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CoChat. (2026). Citation check: Mining SNPs From EST Databases. https://app.cochat.ai/papers/10.1101/gr.9.2.167
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Picoult-Newberg, L., Ideker, T. E., Pohl, M. G., Taylor, S. L., Donaldson, M. A., Nickerson, D. A., & Boyce-Jacino, M. (1999). Mining SNPs From EST Databases. Genome Research. https://doi.org/10.1101/gr.9.2.167

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