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Predicting the effects of frameshifting indels

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Contributed by:Administrator
Originally posted:10th February 2012: 2:19 pm
Short URL:http://gen2phen.org/node/58228
Public document Public - anyone can view
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DOI: 
10.1186/gb-2012-13-2-r9
URL: 
http://genomebiology.com/2012/13/2/R9

Each human has approximately 50-280 frameshifting indels, yet their implications are unknown. We created SIFT Indel, a prediction method for frameshifting indels which has 84% accuracy. The percentage of human frameshifting indels predicted to be gene-damaging is negatively correlated with allele frequency. We also show that although the first frameshifting indel in a gene causes loss of function, there is a tendency for the second frameshifting indel to compensate and restore protein function. SIFT Indel is available at http://siftdna.org/www/SIFT_indels2.html

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