SCSilicon : a tool for synthetic single-cell DNA sequencing data generation
Research output: Journal Publications and Reviews › RGC 21 - Publication in refereed journal › peer-review
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Detail(s)
Original language | English |
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Article number | 359 |
Journal / Publication | BMC Genomics |
Volume | 23 |
Online published | 11 May 2022 |
Publication status | Published - 2022 |
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DOI | DOI |
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Link to Scopus | https://www.scopus.com/record/display.uri?eid=2-s2.0-85129950859&origin=recordpage |
Permanent Link | https://scholars.cityu.edu.hk/en/publications/publication(5bbe4bdd-d9d5-4cd8-81b4-869be140a098).html |
Abstract
Background: Single-cell DNA sequencing is getting indispensable in the study of cell-specific cancer genomics. The performance of computational tools that tackle single-cell genome aberrations may be nevertheless undervalued or overvalued, owing to the insufficient size of benchmarking data. In silicon simulation is a cost-effective approach to generate as many single-cell genomes as possible in a controlled manner to make reliable and valid benchmarking.
Results: This study proposes a new tool, SCSilicon, which efficiently generates single-cell in silicon DNA reads with minimum manual intervention. SCSilicon automatically creates a set of genomic aberrations, including SNP, SNV, Indel, and CNV. Besides, SCSilicon yields the ground truth of CNV segmentation breakpoints and subclone cell labels. We have manually inspected a series of synthetic variations. We conducted a sanity check of the start-of-the-art single-cell CNV callers and found SCYN was the most robust one.
Conclusions: SCSilicon is a user-friendly software package for users to develop and benchmark single-cell CNV callers. Source code of SCSilicon is available at https://github.com/xikanfeng2/SCSilicon.
Results: This study proposes a new tool, SCSilicon, which efficiently generates single-cell in silicon DNA reads with minimum manual intervention. SCSilicon automatically creates a set of genomic aberrations, including SNP, SNV, Indel, and CNV. Besides, SCSilicon yields the ground truth of CNV segmentation breakpoints and subclone cell labels. We have manually inspected a series of synthetic variations. We conducted a sanity check of the start-of-the-art single-cell CNV callers and found SCYN was the most robust one.
Conclusions: SCSilicon is a user-friendly software package for users to develop and benchmark single-cell CNV callers. Source code of SCSilicon is available at https://github.com/xikanfeng2/SCSilicon.
Research Area(s)
- Copy number variation, Simulation, Single-cell sequencing
Citation Format(s)
SCSilicon: a tool for synthetic single-cell DNA sequencing data generation. / Feng, Xikang; Chen, Lingxi.
In: BMC Genomics, Vol. 23, 359, 2022.
In: BMC Genomics, Vol. 23, 359, 2022.
Research output: Journal Publications and Reviews › RGC 21 - Publication in refereed journal › peer-review
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