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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...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2012
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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 |
format | Online Article Text |
id | pubmed-3334572 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT hujing predictingtheeffectsofframeshiftingindels AT ngpaulinec predictingtheeffectsofframeshiftingindels |