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Nature Methods 6, 473–474 (1 July 2009) | doi:10.1038/nmeth.f.256

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

Seunghak Lee , Fereydoun Hormozdiari , Can Alkan & Michael Brudno

To the Editor: Human genetic variation comes in a wide range of sizes, from single-nucleotide polymorphisms and very small insertions and deletions (indels) to |[lsquo]|structural|[rsquo]| 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 (50 bp) from high-throughput sequencing have been developed.