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. 2024 Aug 28;14(1):145.
doi: 10.1038/s41408-024-01108-5.

Genome profiling with targeted adaptive sampling long-read sequencing for pediatric leukemia

Shota Kato  1 , Aiko Sato-Otsubo  1 , Wataru Nakamura  2 , Masahiro Sugawa  2 , Ai Okada  2 , Kenichi Chiba  2 , Nao Takasugi  1 , Tomoya Irikura  1 , Moe Hidaka  1 , Masahiro Sekiguchi  1 , Kentaro Watanabe  1 , Yuichi Shiraishi  2 , Motohiro Kato  3
Affiliations

Genome profiling with targeted adaptive sampling long-read sequencing for pediatric leukemia

Shota Kato et al. Blood Cancer J. .

Abstract

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1. Subtype-defining alterations and other important genome alterations detected by TAS-LRS and/or clinical tests.
AML, acute myeloid leukemia; B-ALL, B-cell acute lymphoblastic leukemia; T-ALL, T-cell acute lymphoblastic leukemia; TAS-LRS, targeted adaptive sampling long-read sequencing.
Fig. 2
Fig. 2. Comparison of the results of TAS-LRS with those of short-read WGS.
A Number of SNVs and small indels detected by TAS-LRS and/or short-read WGS. The variants detected by both TAS-LRS and short-read WGS are annotated as “Common.” B Number of SVs detected by TAS-LRS and/or short-read WGS. “Common (as SV)” represents variants commonly detected by TAS-LRS as SVs and short-read WGS as SVs, and “Common (as CNV)” represents variants commonly detected by TAS-LRS as CNVs and short-read WGS as SVs. C Allele frequency of variants detected by TAS-LRS (including those commonly detected by short-read WGS) and those detected only by short-read WGS. Asterisks represent statistically significant differences (* P ≤ 0.001). NS, not significant. D Blast fraction of variants detected by TAS-LRS (including those commonly detected by short-read WGS) and those detected only by short-read WGS. Mann–Whitney U test was applied for the statistical analyses.
See this image and copyright information in PMC

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