RT Journal Article SR Electronic T1 Detection of de novo copy number deletions from targeted sequencing of trios JF bioRxiv FD Cold Spring Harbor Laboratory SP 252833 DO 10.1101/252833 A1 Jack M. Fu A1 Elizabeth J. Leslie A1 Alan F. Scott A1 Jeffrey C. Murray A1 Mary L. Marazita A1 Terri H. Beaty A1 Robert B. Scharpf A1 Ingo Ruczinski YR 2018 UL http://biorxiv.org/content/early/2018/01/24/252833.abstract AB 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.