{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["16"],"submitter":["Deserranno K"],"pubmed_abstract":["Clinical pharmacogenomics (PGx) testing strategies are mainly based on targeted PCR, microarrays, or short-read sequencing. These methods perform well for detecting known single-nucleotide variants (SNVs), small insertions/deletions (indels), and certain copy number variants (CNVs), but they fall short in resolving complex structural variants (SVs), particularly in complex pharmacogenes such as <i>CYP2D6</i>. Therefore, we previously developed a targeted PGx test based on long-read Oxford Nanopore Technologies (ONT) sequencing. Harnessing adaptive sampling (AS) for <i>in silico</i> enrichment of a panel of PGx genes, we illustrated superior performance in star-allele calling compared to the Genetic Testing Reference Materials Program (GeT-RM) truth set. However, accurate diplotyping of <i>"],"journal":["Frontiers in pharmacology"],"pagination":["1653999"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12455207"],"repository":["biostudies-literature"],"pubmed_title":["Comparative evaluation of Oxford Nanopore Technologies' adaptive sampling and the Twist long-read PGx panel for pharmacogenomic profiling."],"pmcid":["PMC12455207"],"pubmed_authors":["Deserranno K","Deforce D","Tilleman L","Van Nieuwerburgh F"],"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":"Clinical pharmacogenomics (PGx) testing strategies are mainly based on targeted PCR, microarrays, or short-read sequencing. These methods perform well for detecting known single-nucleotide variants (SNVs), small insertions/deletions (indels), and certain copy number variants (CNVs), but they fall short in resolving complex structural variants (SVs), particularly in complex pharmacogenes such as <i>CYP2D6</i>. Therefore, we previously developed a targeted PGx test based on long-read Oxford Nanopore Technologies (ONT) sequencing. Harnessing adaptive sampling (AS) for <i>in silico</i> enrichment of a panel of PGx genes, we illustrated superior performance in star-allele calling compared to the Genetic Testing Reference Materials Program (GeT-RM) truth set. However, accurate diplotyping of <i>","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025","modification":"2026-06-03T19:41:21.064Z","creation":"2026-05-01T03:10:32.122Z"},"accession":"S-EPMC12455207","cross_references":{"pubmed":["40994639"],"doi":["10.3389/fphar.2025.1653999"]}}