Toward better understanding of artifacts in variant calling from high-coverage samples

@article{Li2014TowardBU,
  title={Toward better understanding of artifacts in variant calling from high-coverage samples},
  author={Heng Li},
  journal={Bioinformatics},
  year={2014},
  volume={30 20},
  pages={2843-51}
}
MOTIVATION Whole-genome high-coverage sequencing has been widely used for personal and cancer genomics as well as in various research areas. However, in the lack of an unbiased whole-genome truth set, the global error rate of variant calls and the leading causal artifacts still remain unclear even given the great efforts in the evaluation of variant calling methods. RESULTS We made 10 single nucleotide polymorphism and INDEL call sets with two read mappers and five variant callers, both on a… CONTINUE READING
Highly Influential
This paper has highly influenced 25 other papers. REVIEW HIGHLY INFLUENTIAL CITATIONS
150 Citations
45 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-10 of 150 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 45 references

SNAP: fast, accurate sequence alignment enabling biological applications. Unpublished

  • Bolosky, J W.
  • 2014

The role of replicates for error mitigation in next-generation sequencing

  • K Robasky
  • Nat Rev Genet,
  • 2014

A comparative analysis of algorithms for somatic snv detection in cancer

  • Roberts, D N.
  • 2013

Similar Papers

Loading similar papers…