MoDIL
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Application data |
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| Biological application domain(s) | Genomics, Indel detection |
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| Technology | Illumina |
| Created at | University of Toronto |
| Maintained? | Yes |
| Programming language(s) | Python |
Summary: Program to detect small indels in next generation sequencing data
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While methods for detecting both SNPs and large scale "structural" variation from high-throughput sequencing data have been developed, detection of medium-size (10-50bp) indel variants remains a challenge. The variants are too big to be found with mapping of short reads, and too small to be detected with previous methods for locating structural variations. MoDIL, or Mixture of Distributions Indel Locator, is a novel method for finding medium sized indels from high throughput sequencing datasets. This method can take advantage of the high clone coverage of these datasets to identify progressively shorter indel variants, even if the individual clone sizes are unreliable. Furthermore, this method models each genomic locus as a mixture of two distributions of indel sizes, allowing for the detection of heterozygous, as well as homozygous variants.
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