MoDIL: detecting small indels from clone-end sequencing with mixtures of distributions.

Abstract

Human genetic variation comes in a wide range of sizes, from single-nucleotide polymorphisms and very small insertions and deletions (indels) to structural variants, in which large segments of the genome are inserted, deleted, inverted or duplicated. Recently several methods for the identification of both small-size indels (less than 10 base pairs (bp)) and larger ones (more than 50 bp) from high-throughput sequencing have been developed. There should also be a large amount of medium-sized variation: insertions and deletions of 10 to 50 nucleotides. Here we describe MoDIL, mixture of distributions indel locator, the first method to identify 20 to 50bp indels from high-throughput sequencing data. MoDIL is available at http://compbio.cs.toronto.edu/modil/.

Publication
Nature methods, 6: 473-474, 2009
Date
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