WFRF:(Jing Peng)
Sökning: WFRF:(Jing Peng) > Quartet DNA referen...
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 04302naa a2200697 4500 | |
| 001 | oai:DiVA.org:uu-518189 | |
| 003 | SwePub | |
| 008 | 231218s2023 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-5181892 URI |
| 024 | 7 | a https://doi.org/10.1186/s13059-023-03109-22 DOI |
| 040 | a (SwePub)uu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Ren, Luyao4 aut |
| 245 | 1 0 | a Quartet DNA reference materials and datasets for comprehensively evaluating germline variant calling performance |
| 264 | 1 | b BioMed Central (BMC),c 2023 |
| 338 | a electronic2 rdacarrier | |
| 520 | a BACKGROUND: 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.RESULTS: 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. Importantly, the genetic built-in-truth of the Quartet family design enables estimation of the precision of variant calls outside the benchmark regions. Using the Quartet reference materials along with study samples, batch effects are objectively monitored and alleviated by training a machine learning model with the Quartet reference datasets to remove potential artifact calls. Moreover, the matched RNA and protein reference materials and datasets from the Quartet project enables cross-omics validation of variant calls from multiomics data.CONCLUSIONS: The Quartet DNA reference materials and reference datasets provide a unique resource for objectively assessing the quality of germline variant calls throughout the whole-genome regions and improving the reliability of large-scale genomic profiling. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
| 700 | 1 | a Duan, Xiaoke4 aut |
| 700 | 1 | a Dong, Lianhua4 aut |
| 700 | 1 | a Zhang, Rui4 aut |
| 700 | 1 | a Yang, Jingcheng4 aut |
| 700 | 1 | a Gao, Yuechen4 aut |
| 700 | 1 | a Peng, Rongxue4 aut |
| 700 | 1 | a Hou, Wanwan4 aut |
| 700 | 1 | a Liu, Yaqing4 aut |
| 700 | 1 | a Li, Jingjing4 aut |
| 700 | 1 | a Yu, Ying4 aut |
| 700 | 1 | a Zhang, Naixin4 aut |
| 700 | 1 | a Shang, Jun4 aut |
| 700 | 1 | a Liang, Fan4 aut |
| 700 | 1 | a Wang, Depeng4 aut |
| 700 | 1 | a Chen, Hui4 aut |
| 700 | 1 | a Sun, Lele4 aut |
| 700 | 1 | a Hao, Lingtong4 aut |
| 700 | 1 | a Scherer, Andreas4 aut |
| 700 | 1 | a Nordlund, Jessicau Uppsala universitet,Molekylär precisionsmedicin,Science for Life Laboratory, SciLifeLab,EATRIS ERIC-European Infrastructure for Translational Medicine, Amsterdam, the Netherlands4 aut0 (Swepub:uu)jesno775 |
| 700 | 1 | a Xiao, Wenming4 aut |
| 700 | 1 | a Xu, Joshua4 aut |
| 700 | 1 | a Tong, Weida4 aut |
| 700 | 1 | a Hu, Xin4 aut |
| 700 | 1 | a Jia, Peng4 aut |
| 700 | 1 | a Ye, Kai4 aut |
| 700 | 1 | a Li, Jinming4 aut |
| 700 | 1 | a Jin, Li4 aut |
| 700 | 1 | a Hong, Huixiao4 aut |
| 700 | 1 | a Wang, Jing4 aut |
| 700 | 1 | a Fan, Shaohua4 aut |
| 700 | 1 | a Fang, Xiang4 aut |
| 700 | 1 | a Zheng, Yuanting4 aut |
| 700 | 1 | a Shi, Leming4 aut |
| 710 | 2 | a Uppsala universitetb Molekylär precisionsmedicin4 org |
| 773 | 0 | t Genome Biologyd : BioMed Central (BMC)g 24:1q 24:1x 1465-6906x 1474-760X |
| 856 | 4 | u https://doi.org/10.1186/s13059-023-03109-2y Fulltext |
| 856 | 4 | u https://uu.diva-portal.org/smash/get/diva2:1820327/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-518189 |
| 856 | 4 8 | u https://doi.org/10.1186/s13059-023-03109-2 |
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