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Predicting the effects of frameshifting indels

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...

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Detalles Bibliográficos
Autores principales: Hu, Jing, Ng, Pauline C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3334572/
https://www.ncbi.nlm.nih.gov/pubmed/22322200
http://dx.doi.org/10.1186/gb-2012-13-2-r9
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author Hu, Jing
Ng, Pauline C
author_facet Hu, Jing
Ng, Pauline C
author_sort Hu, Jing
collection PubMed
description 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
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spelling pubmed-33345722012-04-27 Predicting the effects of frameshifting indels Hu, Jing Ng, Pauline C Genome Biol Method 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 BioMed Central 2012 2012-02-09 /pmc/articles/PMC3334572/ /pubmed/22322200 http://dx.doi.org/10.1186/gb-2012-13-2-r9 Text en Copyright ©2012 Hu and Ng; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Method
Hu, Jing
Ng, Pauline C
Predicting the effects of frameshifting indels
title Predicting the effects of frameshifting indels
title_full Predicting the effects of frameshifting indels
title_fullStr Predicting the effects of frameshifting indels
title_full_unstemmed Predicting the effects of frameshifting indels
title_short Predicting the effects of frameshifting indels
title_sort predicting the effects of frameshifting indels
topic Method
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3334572/
https://www.ncbi.nlm.nih.gov/pubmed/22322200
http://dx.doi.org/10.1186/gb-2012-13-2-r9
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