Open Access Highly Accessed Research article

Quantifying single nucleotide variant detection sensitivity in exome sequencing

Alison M Meynert1*, Louise S Bicknell1, Matthew E Hurles2, Andrew P Jackson1 and Martin S Taylor1*

Author Affiliations

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

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BMC Bioinformatics 2013, 14:195  doi:10.1186/1471-2105-14-195

Published: 18 June 2013

Additional files

Additional file 1:

Supplementary information. Supplementary information, figures, and tables.

Format: PDF Size: 254KB Download file

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Additional file 2:

recall.tsv. Tab-delimited text file containing empirical sensitivity estimates for read depths up to 100X.

Format: TSV Size: 10KB Download file

Open Data

Additional file 3:

depth_and_recall.r. R scripts for applying empirical sensitivity curve to exome alignment data.

Format: R Size: 5KB Download file

Open Data