Identification of Candidate Coding Region Single Nucleotide Polymorphisms in 165 Human Genes Using Assembled Expressed Sequence Tags | Zendy

Kavita S. Garg | Zendy; Philip Green | Zendy; Deborah A. Nickerson | Zendy

Open Access

Identification of Candidate Coding Region Single Nucleotide Polymorphisms in 165 Human Genes Using Assembled Expressed Sequence Tags

Author(s) -

Kavita S. Garg,

Philip Green,

Deborah A. Nickerson

Publication year - 1999

Publication title -

genome research

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 9.556

H-Index - 297

eISSN - 1549-5469

pISSN - 1088-9051

DOI - 10.1101/gr.9.11.1087

Subject(s) - biology , contig , expressed sequence tag , genetics , coding region , gene , human genome , single nucleotide polymorphism , genome , complementary dna , sequence tagged site , computational biology , nucleotide diversity , gene mapping , haplotype , genotype , chromosome

Using assembled expressed sequence tags (ESTs) from 50 different cDNA libraries, we have identified contigs that represent the complete coding sequences of 850 known human genes, and have scanned these for high quality sequence substitutions. We report the identification and characteristics of 201 candidate single nucleotide polymorphisms found in the coding sequences (cSNPs) of 165 of these genes. Using a conservative calculation, coding region nucleotide diversity (the average number of differences between any pair of chromosomes) was found to be 3 per 10,000 bp based on this data. This analysis reveals that assembled ESTs from multiple libraries may provide a rich source of comparative sequences to search for cSNPs in the human genome.

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