title: PatternCNV: a versatile tool for detecting copy number changes from exome sequencing data.
abstract: BACKGROUND
  Exome sequencing (exome-seq) data, which are typically used for calling exonic mutations, have also been utilized in detecting DNA copy number variations (CNVs). Despite the existence of several CNV detection tools, there is still a great need for a sensitive and an accurate CNV-calling algorithm with built-in QC steps, and does not require a paired reference for each sample.
  
  
  RESULTS
  We developed a novel method named PatternCNV, which (i) accounts for the read coverage variations between exons while leveraging the consistencies of this variability across different samples; (ii) reduces alignment BAM files to WIG format and therefore greatly accelerates computation; (iii) incorporates multiple QC measures designed to identify outlier samples and batch effects; and (iv) provides a variety of visualization options including chromosome, gene and exon-level views of CNVs, along with a tabular summarization of the exon-level CNVs. Compared with other CNV-calling algorithms using data from a lymphoma exome-seq study, PatternCNV has higher sensitivity and specificity.
  
  
  METHODS
  The software for PatternCNV is implemented using Perl and R, and can be used in Mac or Linux environments. Software and user manual are available at http://bioinformaticstools.mayo.edu/research/patterncnv/, and R package at https://github.com/topsoil/patternCNV/.
authors.affiliation: Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Division of Epidemiology, Department of Health Sciences Research, Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA.
authors.forename: Chen
authors.initials: C
authors.lastname: Wang
authors.affiliation: Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Division of Epidemiology, Department of Health Sciences Research, Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA.
authors.forename: Jared M
authors.initials: JM
authors.lastname: Evans
authors.affiliation: Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Division of Epidemiology, Department of Health Sciences Research, Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA.
authors.forename: Aditya V
authors.initials: AV
authors.lastname: Bhagwate
authors.affiliation: Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Division of Epidemiology, Department of Health Sciences Research, Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA.
authors.forename: Naresh
authors.initials: N
authors.lastname: Prodduturi
authors.affiliation: Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Division of Epidemiology, Department of Health Sciences Research, Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA.
authors.forename: Vivekananda
authors.initials: V
authors.lastname: Sarangi
authors.affiliation: Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Division of Epidemiology, Department of Health Sciences Research, Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA.
authors.forename: Mridu
authors.initials: M
authors.lastname: Middha
authors.affiliation: Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Division of Epidemiology, Department of Health Sciences Research, Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA.
authors.forename: Hugues
authors.initials: H
authors.lastname: Sicotte
authors.affiliation: Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Division of Epidemiology, Department of Health Sciences Research, Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA.
authors.forename: Peter T
authors.initials: PT
authors.lastname: Vedell
authors.affiliation: Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Division of Epidemiology, Department of Health Sciences Research, Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA.
authors.forename: Steven N
authors.initials: SN
authors.lastname: Hart
authors.affiliation: Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Division of Epidemiology, Department of Health Sciences Research, Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA.
authors.forename: Gavin R
authors.initials: GR
authors.lastname: Oliver
authors.affiliation: Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Division of Epidemiology, Department of Health Sciences Research, Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA.
authors.forename: Jean-Pierre A
authors.initials: JP
authors.lastname: Kocher
authors.affiliation: Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Division of Epidemiology, Department of Health Sciences Research, Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA.
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Maurer
authors.affiliation: Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Division of Epidemiology, Department of Health Sciences Research, Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA.
authors.forename: Anne J
authors.initials: AJ
authors.lastname: Novak
authors.affiliation: Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Division of Epidemiology, Department of Health Sciences Research, Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA.
authors.forename: Susan L
authors.initials: SL
authors.lastname: Slager
authors.affiliation: Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Division of Epidemiology, Department of Health Sciences Research, Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA.
authors.forename: James R
authors.initials: JR
authors.lastname: Cerhan
authors.affiliation: Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Division of Epidemiology, Department of Health Sciences Research, Division of Hematology, Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 and Department of Health Sciences Research, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA.
authors.forename: Yan W
authors.initials: YW
authors.lastname: Asmann
mesh_terms: D000465:Algorithms; D056915:DNA Copy Number Variations; D059472:Exome / Q000235:genetics*; D005091:Exons / Q000235:genetics; D023281:Genomics / Q000379:methods*; D017422:Sequence Analysis, DNA; D012984:Software