{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["5(1)"],"submitter":["Otsuki A"],"pubmed_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 offs"],"journal":["Communications biology"],"pagination":["991"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9489684"],"repository":["biostudies-literature"],"pubmed_title":["Construction of a trio-based structural variation panel utilizing activated T lymphocytes and long-read sequencing technology."],"pmcid":["PMC9489684"],"pubmed_authors":["Kinoshita K","Yamamoto M","Ishida N","Kawashima J","Taguchi K","Tamiya G","Otsuki A","Okamura Y","Takayama J","Kumada K","Kuriyama S","Minegishi N","Katsuoka F","Tadaka S"],"additional_accession":[]},"is_claimable":false,"name":"Construction of a trio-based structural variation panel utilizing activated T lymphocytes and long-read sequencing technology.","description":"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 offs","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Sep","modification":"2025-04-22T11:01:05.749Z","creation":"2025-04-05T23:47:16.485Z"},"accession":"S-EPMC9489684","cross_references":{"pubmed":["36127505"],"doi":["10.1038/s42003-022-03953-1"]}}