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Title: Characterization of frequencies and distribution of single nucleotide insertions/deletions in the human genome
Authors: Tan, E.-C. 
Li, H.
Keywords: DBSNP
Mononucleotide repeats
Issue Date: 5-Jul-2006
Citation: Tan, E.-C., Li, H. (2006-07-05). Characterization of frequencies and distribution of single nucleotide insertions/deletions in the human genome. Gene 376 (1-2) : 268-280. ScholarBank@NUS Repository.
Abstract: Most of the studies on single nucleotide variations are on substitutions rather than insertions/deletions. In this study, we examined the distribution and characteristics of single nucleotide insertions/deletions (SNindels), using data available from dbSNP for all the human chromosomes. There are almost 300,000 SNindels in the database, of which only 0.8% are validated. They occur at the frequency of 0.887 per 10 kb on average for the whole genome, or approximately 1 for every 11,274 bp. More than half occur in regions with mononucleotide repeats the longest of which is 47 bases. Overall the mononucleotide repeats involving C and G are much shorter than those for A and T. About 12% are surrounded by palindromes. There is general correlation between chromosome size and total number for each chromosome. Inter-chromosomal variation in density ranges from 0.6 to 21.7 per kilobase. The overall spectrum shows very high proportion of SNindel of types -/A and -/T at over 81%. The proportion of -/A and -/T SNindels for each chromosome is correlated to its AT content. Less than half of the SNindels are within or near known genes and even fewer (
Source Title: Gene
ISSN: 03781119
DOI: 10.1016/j.gene.2006.04.009
Appears in Collections:Staff Publications

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