Detection of de novo copy number deletions from targeted sequencing of trios

Fu, J. M.; Leslie, E. J.; Scott, A. F.; Murray, J. C.; Marazita, M. L.; Beaty, T. H.; Scharpf, R. B.; Ruczinski, I.

doi:10.1101/252833

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bioRxiv · 10.1101/252833

Detection of de novo copy number deletions from targeted sequencing of trios

Fu, J. M.·Leslie, E. J.·Scott, A. F.·Murray, J. C.·Marazita, M. L.·Beaty, T. H.·Scharpf, R. B.·Ruczinski, I.

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Abstract

De novo copy number deletions have been implicated in many diseases, but there is no formal method to date however that identifies de novo deletions in parent-offspring trios from capture-based sequencing platforms. We developed Minimum Distance for Targeted Sequencing (MDTS) to fill this void. MDTS has similar sensitivity (recall), but a much lower false positive rate compared to less specific CNV callers, resulting in a much higher positive predictive value (precision). MDTS also exhibited much better scalability, and is available as open source software at github.com/JMF47/MDTS.

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Fu, J. M., Leslie, E. J., Scott, A. F., Murray, J. C., Marazita, M. L., Beaty, T. H., Scharpf, R. B., Ruczinski, I.. 2018-01-24. Detection of de novo copy number deletions from targeted sequencing of trios. https://doi.org/10.1101/252833

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