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Predicting the effects of frameshifting indels

2012; BioMed Central; Volume: 13; Issue: 2 Linguagem: Inglês

10.1186/gb-2012-13-2-r9

1474-760X

Jing Hu, Pauline C. Ng,

Natural Language Processing Techniques

Abstract Each human has approximately 50 to 280 frameshifting indels, yet their implications are unknown. We created SIFT Indel, a prediction method for frameshifting indels that 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://sift-dna.org/www/SIFT_indels2.html