Reconstructing and counting genomic fragments through tagmentation-based haploid phasing
Abstract Single-cell sequencing provides a new level of granularity in studying the heterogeneous nature of cancer cells. For some cancers, this heterogeneity is the result of copy number changes of genes within the cellular genomes. The ability to accurately determine such copy number changes is cr...
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Nature Portfolio
2021
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oai:doaj.org-article:09b5a697e27d46549e20b82bd83e072f2021-12-02T15:15:04ZReconstructing and counting genomic fragments through tagmentation-based haploid phasing10.1038/s41598-021-97852-w2045-2322https://doaj.org/article/09b5a697e27d46549e20b82bd83e072f2021-09-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-97852-whttps://doaj.org/toc/2045-2322Abstract Single-cell sequencing provides a new level of granularity in studying the heterogeneous nature of cancer cells. For some cancers, this heterogeneity is the result of copy number changes of genes within the cellular genomes. The ability to accurately determine such copy number changes is critical in tracing and understanding tumorigenesis. Current single-cell genome sequencing methodologies infer copy numbers based on statistical approaches followed by rounding decimal numbers to integer values. Such methodologies are sample dependent, have varying calling sensitivities which heavily depend on the sample’s ploidy and are sensitive to noise in sequencing data. In this paper we have demonstrated the concept of integer-counting by using a novel bioinformatic algorithm built on our library construction chemistry in order to detect the discrete nature of the genome.Patrick P. T. LeongAleksandar MihajlovićNadežda BogdanovićLuka BreberinaLarry XiNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-10 (2021) |
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Medicine R Science Q Patrick P. T. Leong Aleksandar Mihajlović Nadežda Bogdanović Luka Breberina Larry Xi Reconstructing and counting genomic fragments through tagmentation-based haploid phasing |
description |
Abstract Single-cell sequencing provides a new level of granularity in studying the heterogeneous nature of cancer cells. For some cancers, this heterogeneity is the result of copy number changes of genes within the cellular genomes. The ability to accurately determine such copy number changes is critical in tracing and understanding tumorigenesis. Current single-cell genome sequencing methodologies infer copy numbers based on statistical approaches followed by rounding decimal numbers to integer values. Such methodologies are sample dependent, have varying calling sensitivities which heavily depend on the sample’s ploidy and are sensitive to noise in sequencing data. In this paper we have demonstrated the concept of integer-counting by using a novel bioinformatic algorithm built on our library construction chemistry in order to detect the discrete nature of the genome. |
format |
article |
author |
Patrick P. T. Leong Aleksandar Mihajlović Nadežda Bogdanović Luka Breberina Larry Xi |
author_facet |
Patrick P. T. Leong Aleksandar Mihajlović Nadežda Bogdanović Luka Breberina Larry Xi |
author_sort |
Patrick P. T. Leong |
title |
Reconstructing and counting genomic fragments through tagmentation-based haploid phasing |
title_short |
Reconstructing and counting genomic fragments through tagmentation-based haploid phasing |
title_full |
Reconstructing and counting genomic fragments through tagmentation-based haploid phasing |
title_fullStr |
Reconstructing and counting genomic fragments through tagmentation-based haploid phasing |
title_full_unstemmed |
Reconstructing and counting genomic fragments through tagmentation-based haploid phasing |
title_sort |
reconstructing and counting genomic fragments through tagmentation-based haploid phasing |
publisher |
Nature Portfolio |
publishDate |
2021 |
url |
https://doaj.org/article/09b5a697e27d46549e20b82bd83e072f |
work_keys_str_mv |
AT patrickptleong reconstructingandcountinggenomicfragmentsthroughtagmentationbasedhaploidphasing AT aleksandarmihajlovic reconstructingandcountinggenomicfragmentsthroughtagmentationbasedhaploidphasing AT nadezdabogdanovic reconstructingandcountinggenomicfragmentsthroughtagmentationbasedhaploidphasing AT lukabreberina reconstructingandcountinggenomicfragmentsthroughtagmentationbasedhaploidphasing AT larryxi reconstructingandcountinggenomicfragmentsthroughtagmentationbasedhaploidphasing |
_version_ |
1718387551748751360 |