False Negatives Are a Significant Feature of Next Generation Sequencing Callsets

@article{Bobo2016FalseNA,
  title={False Negatives Are a Significant Feature of Next Generation Sequencing Callsets},
  author={Dean M Bobo and M. Lipatov and J. Rodriguez-Flores and A. Auton and B. Henn},
  journal={bioRxiv},
  year={2016}
}
  • Dean M Bobo, M. Lipatov, +2 authors B. Henn
  • Published 2016
  • Biology
  • bioRxiv
  • Short-read, next-generation sequencing (NGS) is now broadly used to identify rare or de novo mutations in population samples and disease cohorts. [...] Key Method Using thousand-fold coverage NGS data from both Illumina HiSeq and Complete Genomics platforms derived from the 1000 Genomes Project, we first characterize the false negative rate in human mtDNA genomes. The false negative rate for the publically available callsets is 17-20%, even for extremely high coverage haploid data. We demonstrate that high FN…Expand Abstract
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