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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Veröffentlicht in:BMC bioinformatics Jg. 18; H. 1; S. 442 - 8
Hauptverfasser: Ferlaino, Michael, Rogers, Mark F., Shihab, Hashem A., Mort, Matthew, Cooper, David N., Gaunt, Tom R., Campbell, Colin
Format: Journal Article
Sprache:Englisch
Veröffentlicht: London BioMed Central 06.10.2017
BioMed Central Ltd
Springer Nature B.V
BMC
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ISSN:1471-2105, 1471-2105
Online-Zugang:Volltext
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