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

Background Small insertions and deletions (indels) have a significant influence in human disease and, in terms of frequency, they are second only to single nucleotide variants as pathogenic mutations. As the majority of mutations associated with complex traits are located outside the exome, it is cr...

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Bibliographic Details
Published in:	BMC bioinformatics Vol. 18; no. 1; pp. 442 - 8
Main Authors:	Ferlaino, Michael, Rogers, Mark F., Shihab, Hashem A., Mort, Matthew, Cooper, David N., Gaunt, Tom R., Campbell, Colin
Format:	Journal Article
Language:	English
Published:	London BioMed Central 06.10.2017 BioMed Central Ltd Springer Nature B.V BMC
Subjects:	Algorithms Analysis Annotations Bioinformatics Biomedical and Life Sciences Computational Biology - methods Computational Biology/Bioinformatics Computer Appl. in Life Sciences Consortia Deoxyribonucleic acid DNA DNA, Intergenic - genetics Genetics, Population Genome, Human Genomes Genomics Human genome Humans INDEL Mutation - genetics Indels Internet Life Sciences Methods Microarrays Mutation Non-coding genome Nucleotide sequence Phenotype Physiological aspects Reproducibility of Results Research Article Results and data ROC Curve Servers Software State of the art Support vector machines Variant prioritisation United Kingdom Support vector machines Indels Variant prioritisation Non-coding genome
ISSN:	1471-2105, 1471-2105
Online Access:	Get full text
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