biostudies-literatureUnknown5(1)Otsuki ALong-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 offsCommunications biology991https://www.ebi.ac.uk/biostudies/studies/S-EPMC9489684biostudies-literatureConstruction of a trio-based structural variation panel utilizing activated T lymphocytes and long-read sequencing technology.PMC9489684Kinoshita KYamamoto MIshida NKawashima JTaguchi KTamiya GOtsuki AOkamura YTakayama JKumada KKuriyama SMinegishi NKatsuoka FTadaka SfalseConstruction of a trio-based structural variation panel utilizing activated T lymphocytes and long-read sequencing technology.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 offs2022-01-01T00:00:00Z2022 Sep2025-04-22T11:01:05.749Z2025-04-05T23:47:16.485ZS-EPMC94896843612750510.1038/s42003-022-03953-1