Article
An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome.
BMC bioinformatics - 6 Oct 2017
Ferlaino Michael, Rogers Mark F, Shihab Hashem A, Mort Matthew, Cooper David N, Gaunt Tom R, Campbell Colin
Abstract excerpt
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 crucial to investigate the potential pathogenic impact of indels in non-coding regions of the human genome. RESULTS:...
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