Functional constraint and small insertions and deletions in the ENCODE regions of the human genome

2007

Study of Small Insertions and Deletions in Human Genome

Sample size: 4486 publication 10 minutes Evidence: moderate

Author Information

Author(s): Clark Taane G, Andrew Toby, Cooper Gregory M, Margulies Elliott H, Mullikin James C, Balding David J

Primary Institution: Department of Epidemiology and Public Health, Imperial College

Do the 14 manually selected regions have lower insertion and deletion rates compared with the 30 randomly selected regions?

Indel rates are greatly reduced in transcribed and evolutionarily constrained DNA.

Indel rates are reduced approximately 20-fold in exonic regions.
Indel rates are smaller than single nucleotide polymorphism (SNP) rates by a factor of approximately 2.
Indels are more common in non-coding regions compared to coding regions.

This study looks at tiny changes in our DNA called indels and finds that they happen less often in important parts of our genes.

The study analyzed small insertion and deletion data from the ENCODE regions of the human genome.

Potential ascertainment bias against AR sequence with common indels.

The study relies on the completeness and accuracy of genomic annotation data.

Data derived from a pool of cell lines from eight unrelated adult African Americans.

0.11

99% CI 13.4 to 16.7

p<0.05

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