Quantification of Aneuploidy in Mammalian Systems

van den Bos, H., Bakker, B., Taudt, A., Guryev, V., Colomé-Tatché, M., Lansdorp, P. M., Foijer, F. & Spierings, D. C. J., 25-Nov-2018, In : Methods in Molecular Biology. 1896, p. 159-190 32 p.

Research output: Contribution to journalArticleAcademicpeer-review

High-throughput next generation sequencing karyotyping has emerged as a powerful tool for the detection of genomic heterogeneity in normal tissues and cancers. Here we describe a single-cell whole genome sequencing (scWGS) platform to assess whole-chromosome aneuploidy, structural aneuploidies involving only chromosome fragments and more local small copy number alterations in individual cells. We provide a detailed protocol for the isolation, library preparation, low coverage sequencing and data analysis of single cells. Since our approach does not involve a whole-genome preamplification step, our method allows for acquisition of reliable high-resolution single-cell copy number profiles. Moreover, the protocol allows multiplexing of 384 single-cell libraries in one sequencing run, thereby significantly reducing sequencing costs and can be completed in 3-4 days starting from single cell isolation to analysis of sequencing data.

Original languageEnglish
Pages (from-to)159-190
Number of pages32
JournalMethods in Molecular Biology
Publication statusE-pub ahead of print - 25-Nov-2018

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