{"database":"biostudies-arrayexpress","file_versions":[],"scores":null,"additional":{"submitter":["Koen Deserranno"],"organism":["Homo sapiens"],"software":["Dorado (0.9.0)"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/E-MTAB-15248"],"description":["We used targeted long-read Oxford Nanopore Technologies sequencing enriching for a panel of 1036 pharmacogenes extracted from the PharmGKB database. The enrichment was performed using ONT's adaptive sampling feature, enabling in silico enrichment without physically capturing the fragments of interest using hybridization."],"repository":["biostudies-arrayexpress"],"sample_protocol":["Nucleic Acid Extraction - N/A","Library Construction - Oxford Nanopore Technologies native barcode ligation using the SQK-NBD114.24 library preparation kit. Sample HG001, HG01190, and NA19785 were pooled on one flow cell. Sample HG002 and HG005 were pooled on a second flow cell.","Sample Collection - The reference DNA standards were obtained from the Coriell Institute for Medical Research (Camden, NJ, United States)","Sequencing - Oxford Nanopore Sequencing on PromethION using R10.4.1 flow cells, with adaptive sampling enabled. The list with target genes can be found as supplementary materials from https://www.frontiersin.org/journals/pharmacology/articles/10.3389/fphar.2023.1286764/full#h3."],"figure_sub":["Organization","MINSEQE Score","Assays and Data","MAGE-TAB Files"],"data_protocol":["Sequence Alignment - The raw .fast5 data was first converted to .pod5 using pod5 convert fast5 (20). Rebasecalling and demultiplexing was performed with Dorado (v.0.9.0) using the sup model."],"omics_type":["Metabolomics","Unknown","Transcriptomics","Genomics","Proteomics"],"instrument_platform":["PromethION"],"study_type":["genotyping by high throughput sequencing"],"species":["Homo sapiens"],"pubmed_title":["Comparative evaluation of Oxford Nanopore Technologies’ adaptive sampling and the Twist long-read PGx panel for pharmacogenomic profiling"],"pubmed_authors":["Deserranno Koen, Tilleman Laurentijn, Deforce Dieter, Van Nieuwerburgh Filip","Filip Van Nieuwerburgh","Koen Deserranno"],"additional_accession":[]},"is_claimable":false,"name":"Comparative evaluation of Oxford Nanopore Technologies’ adaptive sampling and the Twist long-read PGx panel for pharmacogenomic profiling","description":"We used targeted long-read Oxford Nanopore Technologies sequencing enriching for a panel of 1036 pharmacogenes extracted from the PharmGKB database. The enrichment was performed using ONT's adaptive sampling feature, enabling in silico enrichment without physically capturing the fragments of interest using hybridization.","dates":{"release":"2025-12-30T00:00:00Z","modification":"2025-12-30T02:02:13.818Z","creation":"2025-06-20T13:27:15.75Z"},"accession":"E-MTAB-15248","cross_references":{"ENA":["ERP179769"],"EFO":["EFO_0002944","EFO_0004170","EFO_0002771","EFO_0004917","EFO_0005518","EFO_0004184"]}}