A nomenclature for sequence-based forensic DNA analysis |
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| Institution: | 1. Zhejiang Provincial Key Laboratory of Medical Genetics, Key Laboratory of Laboratory Medicine, Ministry of Education, China, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou 325035, Zhejiang, China;2. Shanghai Key Laboratory of Forensic Medicine, Shanghai Forensic Service Platform, Academy of Forensic Science, Shanghai 200063, China;3. Institute of Forensic Medicine, West China School of Basic Medical Sciences & Forensic Medicine, Sichuan University, Chengdu 610041, China;4. The Jackson Laboratory For Genomic Medicine, 10 Discovery Dr., Farmington, CT, 06032, USA;5. School of Basic Medicine, Baotou Medical College, Baotou 014060, Inner Mongolia Autonomous Region, China;6. The Institute of Criminal Science and Technology, Shandong Public Security Department, Jinan 250001, China;7. Weifang Public Security Bureau, Weifang 261061, China;8. PeopleSpot Inc, Beijing 102206, China;9. Department of Histology and Embryology, Harbin Medical University, Harbin 150081, China;1. Institute of Environmental Science and Research Limited, Private Bag 92021, Auckland, 1142, New Zealand;2. University of Auckland, Department of Statistics, Auckland, New Zealand;3. Forensic Science SA, 21 Divett Place, Adelaide, SA, 5000, Australia;4. School of Biological Sciences, Flinders University, GPO Box 2100, Adelaide, SA, 5001, Australia;5. Forensic Genetics Unit, University Center of Legal Medicine, Lausanne - Geneva, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland;6. Fondation pour la formation continue Universitaire Lausannoise (UNIL-EPFL), 1015, Dorigny, Switzerland;1. Institute of Applied Genetics, Department of Molecular and Medical Genetics, University of North Texas Health Science Center, 3500 Camp Bowie Boulevard, Fort Worth, TX 76107, USA;2. Center of Excellence in Genomic Medicine Research (CEGMR), King Abdulaziz University, Jeddah, Saudi Arabia;1. Department of Forensic Medicine, Nanjing Medical University, Nanjing, Jiangsu, 211166, PR China;2. School of Medicine, Southeast University, Nanjing, Jiangsu, 210009, PR China;3. Department of Forensic Biology, West China School of Basic Sciences and Forensic Medicine, Sichuan University, Chengdu, Sichuan, 610041, PR China;4. Key Laboratory of Targeted Intervention of Cardiovascular Disease, Collaborative Innovation Center for Cardiovascular Disease Translational Medicine, Nanjing Medical University, Nanjing, Jiangsu, 211166, PR China;1. Department of Forensic Medicine, College of Medicine, National Taiwan University, No.1 Jen-Ai Road Section 1, Taipei 10051, Taiwan, ROC;2. Laboratory of Cancer Genomic Medicine, LIHPAO Life Science. CO., Ltd., 8F Med Sci & Tech Bldg, No 201, Sec 2 Shipai Rd, Taipei 11217, Taiwan, ROC;3. School of Biological Sciences, Flinders University, Adelaide 5001, Australia;1. Department of Forensic Medicine, Graduate School of Medicne, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo, Japan;2. National Research Institute of Police Science, 6-3-1 Kashiwanoha, Kashiwa, Chiba, Japan;3. Forensic Science Laboratory, Tokyo Metropolitan Police Department, 3-35-21 Shakujiidai, Nerima-ku, Tokyo, Japan;4. Department of Forensic Medicine, Saitama Medical University, 38 Moroyamamachimorohongo, Saitama, Japan |
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| Abstract: | Forensic DNA analysis of casework samples using massively parallel sequencing (MPS) technology requires a system of nomenclature for uniquely labeling sequence-based alleles and artifacts. The DNA Commission of the ISFG has published considerations concerning a nomenclature format that addresses the requirement for unique labeling of sequences. Nomenclatures based on this format can be used in databasing, or communicating sequence types, but the format is lengthy for software interfaces. The sequence identifier (SID) nomenclature addresses this gap by generating short labels able to uniquely identify all sequences (allelic and artifactual) in single-source or casework profiles. Sequences in casework profiles can be uniquely labeled with only two or three SID characters, making the format compact. SID labels can be used in algorithms for identifying and filtering artifacts, and for expressing associations between artifacts and their likely parent alleles. The nomenclature is suitable for use in downstream mixture analysis by any software able to accept character values rather than numeral values. The SID nomenclature is described, and its ability to discriminate sequence-based alleles and artifacts is demonstrated, and its applicability to forensic mixture analysis is demonstrated. |
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| Keywords: | Nomenclature Forensic DNA analysis Massively parallel sequencing Short tandem repeat |
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