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FATHMM-indel specifications

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Unique identifier OMICS_22270
Name FATHMM-indel
Alternative name Functional analysis through hidden Markov models indel
Interface Web user interface
Restrictions to use None
Computer skills Basic
Stability Stable
Maintained Yes

Maintainer


  • person_outline Michael Ferlaino <>

Publication for Functional analysis through hidden Markov models indel

FATHMM-indel citation

library_books

An integrative approach to predicting the functional effects of small indels in non coding regions of the human genome

2017
PMCID: 5955213
PMID: 28985712
DOI: 10.1186/s12859-017-1862-y

[…] mutations associated with complex traits are located outside the exome, it is crucial to investigate the potential pathogenic impact of indels in non-coding regions of the human genome., we present fathmm-indel, an integrative approach to predict the functional effect, pathogenic or neutral, of indels in non-coding regions of the human genome. our method exploits various genomic annotations […]


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FATHMM-indel institution(s)
Big Data Institute, University of Oxford, Oxford, UK; Nuffield Department of Obstetrics and Gynaecology, University of Oxford, Oxford, UK
FATHMM-indel funding source(s)
Supported by MRC grant MR/M01326X/1; the EPSRC grant EP/K008250/1; the Qiagen Inc. through a licence agreement with Cardiff University and by the MRC IEU grant MC UU 12013/8.

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