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Title	Detection of de novo copy number deletions from targeted sequencing of trios
Creator	Ruczinski, Ingo
Publisher	Banff International Research Station for Mathematical Innovation and Discovery
Date Issued	2018-11-08T09:06
Description	De novo copy number deletions have been implicated in many diseases, but no formal methods existed that identify 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. We applied our method to 1,305 case-parent trios with targeted sequencing data of regions previously implicated in oral cleft. Across the 6.3Mb of capture, we detected one de novo deletion in gene TRAF3IP3, in addition to one rare inherited deletion and 2 copy number polymorphic regions.
Extent	32.0
Subject	Mathematics Statistics Computer science
Geographic Location	Oaxaca (Mexico : State)
Type	Moving Image
FileFormat	video/mp4
Language	eng
Notes	Author affiliation: Johns Hopkins Bloomberg School of Public Health
Series	BIRS Workshop Lecture Videos (Oaxaca (Mexico : State))
Date Available	2019-05-08
Provider	Vancouver : University of British Columbia Library
Rights	Attribution-NonCommercial-NoDerivatives 4.0 International
DOI	10.14288/1.0378637
URI	http://hdl.handle.net/2429/70110
Affiliation	Non UBC
Peer Review Status	Unreviewed
Scholarly Level	Faculty
Rights URI	http://creativecommons.org/licenses/by-nc-nd/4.0/
AggregatedSourceRepository	DSpace

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