Illumina Cambridge Ltd., Chesterford Research Park, Little Chesterford, Essex CB10?1XL, UK.
Illumina Inc., San Diego, CA 92122, USA.
Bioinformatics. 2018 Feb 1;34(3):516-518. doi: 10.1093/bioinformatics/btx618.
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.
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.
Canvas SPW is available for download from https://github.com/Illumina/canvas.
Supplementary data are available at Bioinformatics online.
全基因组测序正成为识别具有各种儿科和迟发性遗传疾病的家族中罕见的遗传性和从头拷贝数变异的一种诊断选择。然而，在任意家系结构中，跨样本共识断点比对的复杂性阻碍了家系中的联合变异调用。
我们开发了一种新工具 Canvas SPW，用于从家系测序数据中识别遗传性和从头拷贝数变异。Canvas SPW 支持多种家族结构，并提供广泛的评分和过滤选项，以实现从头变异的自动化和简化识别。
Canvas SPW 可从 https://github.com/Illumina/canvas 下载。
补充数据可在 Bioinformatics 在线获得。
