Identification of indels in next-generation sequencing data

  title={Identification of indels in next-generation sequencing data},
  author={Aakrosh Ratan and Thomas L. Olson and Thomas P. Loughran and Webb Miller},
  booktitle={BMC Bioinformatics},
The discovery and mapping of genomic variants is an essential step in most analysis done using sequencing reads. There are a number of mature software packages and associated pipelines that can identify single nucleotide polymorphisms (SNPs) with a high degree of concordance. However, the same cannot be said for tools that are used to identify the other types of variants. Indels represent the second most frequent class of variants in the human genome, after single nucleotide polymorphisms. The… CONTINUE READING
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