Quartet DNA reference materials and datasets for comprehensively evaluating germline variant calling performance.

"the raw sequence data reported in this paper have been deposited in the genome sequence archive (gsa) (accession number: hra001859) [ 60 ].; variant calling files are deposited in the european variation archive (accession number: prjeb66342) [ 61 ]. quartet dna benchmark sets are available at the quartet data portal (http://chinese-quartet org) [ 26 ] and zenodo at http://doi org/10 5281/zenodo 10075391 [ 62 ].; all scripts used for statistical analyses have been publicly available on github:https://github com/luyaoren/quartet_dna (under the gnu general public license v3 0) [ 63 ] and zenodo: http://doi org/10 5281/zenodo 10076814 [ 64 ]."

"all scripts used for statistical analyses have been publicly available on github:https://github com/luyaoren/quartet_dna (under the gnu general public license v3 0) [ 63 ] and zenodo: http://doi org/10 5281/zenodo 10076814 [ 64 ]."

"Declarations Ethics approval and consent to participateThis study was approved by the Institutional Review Board (IRB) of the School of Life Sciences, Fudan University (BE2050). It was conducted under the principles of the Declaration of Helsinki. Four healthy volunteers from a family quartet participated in the Taizhou Longitudinal Study conducted in Taizhou, Jiangsu, China. Peripheral blood samples were collected from these individuals to establish human immortalized B-lymphoblastoid cell lines. All four donors provided their informed consent by signing consent forms. Consent for publicationNot applicable. Competing interestsF.L. is an employee of Nextomics Biosciences Institute. D.W. is the co-founder of Nextomics Biosciences Institute. H.C. is an employee of OrigiMed Co., Ltd. L.L.S. is the co-founder of Sequanta Technologies Co., Ltd. L.H. is an employee of Genome Wisdom Inc. All other authors declare that they have no competing interests. Competing interests F.L. is an employee of Nextomics Biosciences Institute. D.W. is the co-founder of Nextomics Biosciences Institute. H.C. is an employee of OrigiMed Co., Ltd. L.L.S. is the co-founder of Sequanta Technologies Co., Ltd. L.H. is an employee of Genome Wisdom Inc. All other authors declare that they have no competing interests."

"Funding This study was supported in part by Shanghai Sailing Program (22YF1403500), the National Natural Science Foundation of China (32300536, 32170657 and 31720103909), National Key R&D Project of China (2018YFE0201600), State Key Laboratory of Genetic Engineering (SKLGE-2117), and the 111 Project (B13016). Some of the illustrations in this paper were created with BioRender.com."