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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Autores principales: Patrick P. T. Leong, Aleksandar Mihajlović, Nadežda Bogdanović, Luka Breberina, Larry Xi
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
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Acceso en línea:https://doaj.org/article/09b5a697e27d46549e20b82bd83e072f
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spelling 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)
institution DOAJ
collection DOAJ
language EN
topic Medicine
R
Science
Q
spellingShingle 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
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