PT  - JOURNAL ARTICLE
AU  - Sergii Ivakhno
AU  - Eric Roller
AU  - Camilla Colombo
AU  - Philip Tedder
AU  - Anthony J. Cox
TI  - Canvas SPW: calling <em>de novo</em> copy number variants in pedigrees
AID  - 10.1101/121939
DP  - 2017 Jan 01
TA  - bioRxiv
PG  - 121939
4099  - http://biorxiv.org/content/early/2017/03/29/121939.short
4100  - http://biorxiv.org/content/early/2017/03/29/121939.full
AB  - Motivation Whole 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.Results We 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 Canvas SPW is available for download from https://github.com/Illumina/canvas.Contact sivakhno{at}illumina.comSupplementary information Supplementary data are available at Bioinformatics online.