Quantifying single nucleotide variant detection sensitivity in exome sequencing

@inproceedings{Meynert2013QuantifyingSN,
  title={Quantifying single nucleotide variant detection sensitivity in exome sequencing},
  author={Alison M. Meynert and Louise S. Bicknell and Matthew E. Hurles and Andrew P. Jackson and Martin S. Taylor},
  booktitle={BMC Bioinformatics},
  year={2013}
}
The targeted capture and sequencing of genomic regions has rapidly demonstrated its utility in genetic studies. Inherent in this technology is considerable heterogeneity of target coverage and this is expected to systematically impact our sensitivity to detect genuine polymorphisms. To fully interpret the polymorphisms identified in a genetic study it is often essential to both detect polymorphisms and to understand where and with what probability real polymorphisms may have been missed. Using… CONTINUE READING