title: Characterization of an APC Promoter 1B deletion in a Patient Diagnosed with Familial Adenomatous Polyposis via Whole Genome Shotgun Sequencing.
abstract: Recently, deletions have been identified and published as causal for Familial Adenomatous Polyposis in the 1B promoter region of the APC gene.  Those deletions were measured using multiplex ligation-dependent probe amplification.  Here, we present and characterize an ~11kb deletion identified by whole genome shotgun sequencing.  The deletion occurred in a patient diagnosed with Familial Adenomatous Polyposis, and was located on chr5, between bases 112,034,824 and 112,045,845, fully encompassing the 1B promoter region of the APC gene.   Results are presented here that include the sequence evidence supporting the presence of the deletion as well as base level characterization of the deletion site.  These results demonstrate the capacity of whole genome sequencing for the detection of large structural variants in single individuals.
authors.affiliation: Department of Biochemistry and Molecular Genetics, School of Medicine, University of Louisville, Louisville, Kentucky, 40202, USA.
authors.forename: Ted
authors.initials: T
authors.lastname: Kalbfleisch
authors.affiliation: Clinical Genetics, Weisskopf Child Evaluation Center, University of Louisville, Louisville, Kentucky, 40202, USA.
authors.forename: Pamela
authors.initials: P
authors.lastname: Brock
authors.affiliation: Huntsman Cancer Institute, Salt Lake City, Utah, 84112, USA.
authors.forename: Angela
authors.initials: A
authors.lastname: Snow
authors.affiliation: Huntsman Cancer Institute, Salt Lake City, Utah, 84112, USA ; Division of Genetic Epidemiology, Department of Internal Medicine, University of Utah, Salt Lake City, Utah, 84112, USA.
authors.forename: Deborah
authors.initials: D
authors.lastname: Neklason
authors.affiliation: Clinical Genetics, Weisskopf Child Evaluation Center, University of Louisville, Louisville, Kentucky, 40202, USA.
authors.forename: Gordon
authors.initials: G
authors.lastname: Gowans
authors.affiliation: Department of Medicine, School of Medicine, University of Louisville, Louisville, Kentucky, 40202, USA.
authors.forename: Jon
authors.initials: J
authors.lastname: Klein
keywords: APC; Clinical Sequencing; Familial Adenomatous Polyposis; Next Generation Sequencing