ArticleCommunications biology2022
Construction of a trio-based structural variation panel utilizing activated T lymphocytes and long-read sequencing technology.
Article in Communications biology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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Who cites it
9 citing papers in PubMed, 18 citations in OpenAlex.
- ibSLS as a biobank for democratizing access to multi-omics data and biospecimens from spaceflight research.Nature communications · 2026Article
- Advancements in Whole-Genome Sequencing Protocols: A Decade of In-House Operations and Quality Controls at the Tohoku Medical Megabank.JMA journal · 2025Review
- Cohort Profile Update: The Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study (TMM BirThree Cohort Study) 2023 update.International journal of epidemiology · 2025Article
- Comprehensive and deep evaluation of structural variation detection pipelines with third-generation sequencing data.Genome biology · 2024Article
- Whole blood transcriptome analysis for age- and gender-specific gene expression profiling in Japanese individuals.Journal of biochemistry · 2024Article
- A homozygous structural variant ofGenetics in medicine open · 2024Article
- Article
- Tohoku Medical Megabank Brain Magnetic Resonance Imaging Study: Rationale, Design, and Background.JMA journal · 2023Review
- Accelerated nanopore basecalling with SLOW5 data format.Bioinformatics (Oxford, England) · 2023Article
Corrections and comments
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Authors and funding
14 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Long-read sequencing technology enable better characterization of structural variants (SVs). To adapt the technology to population-scale analyses, one critical issue is to obtain sufficient amount of high-molecular-weight genomic DNA. Here, we propose utilizing activated T lymphocytes, which can be established efficiently in a biobank to stably supply high-grade genomic DNA sufficiently. We conducted nanopore sequencing of 333 individuals constituting 111 trios with high-coverage long-read sequencing data (depth 22.2x, N50 of 25.8 kb) and identified 74,201 SVs. Our trio-based analysis revealed that more than 95% of the SVs were concordant with Mendelian inheritance. We also identified SVs associated with clinical phenotypes, all of which appear to be stably transmitted from parents to offspring. Our data provide a catalog of SVs in the general Japanese population, and the applied approach using the activated T-lymphocyte resource will contribute to biobank-based human genetic studies focusing on SVs at the population scale.
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Registered trials
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