{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Ren L"],"funding":["National Mega Project on Major Infectious Disease Prevention","111 Project","State Key Laboratory of Genetic Engineering","National Natural Science Foundation of China","Shanghai Sailing Program"],"pagination":["270"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10680274"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["24(1)"],"pubmed_abstract":["<h4>Background</h4>Genomic DNA reference materials are widely recognized as essential for ensuring data quality in omics research. However, relying solely on reference datasets to evaluate the accuracy of variant calling results is incomplete, as they are limited to benchmark regions. Therefore, it is important to develop DNA reference materials that enable the assessment of variant detection performance across the entire genome.<h4>Results</h4>We established a DNA reference material suite from four immortalized cell lines derived from a family of parents and monozygotic twins. Comprehensive reference datasets of 4.2 million small variants and 15,000 structural variants were integrated and certified for evaluating the reliability of germline variant calls inside the benchmark regions. Impo"],"journal":["Genome biology"],"pubmed_title":["Quartet DNA reference materials and datasets for comprehensively evaluating germline variant calling performance."],"pmcid":["PMC10680274"],"funding_grant_id":["32300536","32170657","2018YFE0201600","31720103909","B13016","22YF1403500","SKLGE-2117"],"pubmed_authors":["Shi L","Peng R","Hao L","Wang D","Hu X","Shang J","Dong L","Zhang N","Zhang R","Nordlund J","Wang J","Hou W","Sun L","Liu Y","Jia P","Liang F","Ren L","Quartet Project Team","Yu Y","Jin L","Yang J","Zheng Y","Li J","Hong H","Scherer A","Xiao W","Chen H","Tong W","Xu J","Fan S","Fang X","Gao Y","Duan X","Ye K"],"additional_accession":[]},"is_claimable":false,"name":"Quartet DNA reference materials and datasets for comprehensively evaluating germline variant calling performance.","description":"<h4>Background</h4>Genomic DNA reference materials are widely recognized as essential for ensuring data quality in omics research. However, relying solely on reference datasets to evaluate the accuracy of variant calling results is incomplete, as they are limited to benchmark regions. Therefore, it is important to develop DNA reference materials that enable the assessment of variant detection performance across the entire genome.<h4>Results</h4>We established a DNA reference material suite from four immortalized cell lines derived from a family of parents and monozygotic twins. Comprehensive reference datasets of 4.2 million small variants and 15,000 structural variants were integrated and certified for evaluating the reliability of germline variant calls inside the benchmark regions. Impo","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Nov","modification":"2025-05-29T19:36:41.538Z","creation":"2025-02-19T01:42:17.597Z"},"accession":"S-EPMC10680274","cross_references":{"pubmed":["38012772"],"doi":["10.1186/s13059-023-03109-2"]}}