Predicting the effects of frameshifting indels.

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.

journal_name

Genome Biol

journal_title

Genome biology

authors

Hu J,Ng PC

doi

10.1186/gb-2012-13-2-r9

subject

Has Abstract

pub_date

2012-02-09 00:00:00

pages

R9

issue

2

eissn

1474-7596

issn

1474-760X

pii

gb-2012-13-2-r9

journal_volume

13

pub_type

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