Quantifying single nucleotide variant detection sensitivity in exome sequencing
1 MRC Human Genetics Unit, MRC Institute for Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh, UK
2 Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK
BMC Bioinformatics 2013, 14:195 doi:10.1186/1471-2105-14-195Published: 18 June 2013
Additional file 1:
Supplementary information. Supplementary information, figures, and tables.
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Additional file 2:
recall.tsv. Tab-delimited text file containing empirical sensitivity estimates for read depths up to 100X.
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Additional file 3:
depth_and_recall.r. R scripts for applying empirical sensitivity curve to exome alignment data.
Format: R Size: 5KB Download file