Performance evaluation of indel calling tools using real short-read data

@inproceedings{Hasan2015PerformanceEO,
  title={Performance evaluation of indel calling tools using real short-read data},
  author={Mohammad Shabbir Hasan and Xiaowei Wu and Liqing Zhang},
  booktitle={Human Genomics},
  year={2015}
}
Insertion and deletion (indel), a common form of genetic variation, has been shown to cause or contribute to human genetic diseases and cancer. With the advance of next-generation sequencing technology, many indel calling tools have been developed; however, evaluation and comparison of these tools using large-scale real data are still scant. Here we evaluated seven popular and publicly available indel calling tools, GATK Unified Genotyper, VarScan, Pindel, SAMtools, Dindel, GTAK HaplotypeCaller… CONTINUE READING
Highly Cited
This paper has 36 citations. REVIEW CITATIONS
Recent Discussions
This paper has been referenced on Twitter 7 times over the past 90 days. VIEW TWEETS

Citations

Publications citing this paper.
Showing 1-10 of 19 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 51 references

P-Dindel: A multi-thread based tool for calling indels from short reads

  • MS Hasan, L. Zhang
  • In Short abstract of the 11th International…
  • 2015
1 Excerpt

SPAI: Single Platform for Analyzing Indels

  • MS Hasan, L. Zhang
  • In Short abstract of the 11th International…
  • 2015
1 Excerpt

mapping DNA variants that influence gene expression

  • VG Cheung, Spielman RS. Genetics of human gene expression
  • Nat Rev Genet. 2009;10(9):595–604. Hasan et al…
  • 2015
2 Excerpts

Similar Papers

Loading similar papers…