Associate Editor1 Illumina Cambridge Ltd., Chesterford Research Park, Little Chesterford, Essex, UK2 Illumina Inc., San Diego, CA, USA
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MotivationWhole genome sequencing is becoming a diagnostics of choice for the identification of rare inherited and de novo copy number variants in families with various pediatric and late-onset genetic diseases. However, joint variant calling in pedigrees is hampered by the complexity of consensus breakpoint alignment across samples within an arbitrary pedigree structure.ResultsWe have developed a new tool, Canvas SPW, for the identification of inherited and de novo copy number variants from pedigree sequencing data. Canvas SPW supports a number of family structures and provides a wide range of scoring and filtering options to automate and streamline identification of de novo variants.Availability and implementationCanvas SPW is available for download from https://github.com/Illumina/canvas.