Canvas SPW: Calling De Novo Copy Number Variants In Pedigrees

Ivakhno, S.; Roller, E.; Colombo, C.; Tedder, P.; Cox, A. J.

doi:10.1101/121939

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bioRxiv · 10.1101/121939

Canvas SPW: Calling De Novo Copy Number Variants In Pedigrees

Ivakhno, S.·Roller, E.·Colombo, C.·Tedder, P.·Cox, A. J.

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Abstract

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.\n\nResultsWe 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.\n\nAvailabilityCanvas SPW is available for download from https://github.com/Illumina/canvas.\n\nContactsivakhno@illumina.com\n\nSupplementary informationSupplementary data are available at Bioinformatics online.

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Ivakhno, S., Roller, E., Colombo, C., Tedder, P., Cox, A. J.. 2017-03-29. Canvas SPW: Calling De Novo Copy Number Variants In Pedigrees. https://doi.org/10.1101/121939

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