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Forensic DNA phenotyping: Inferring phenotypic traits from crime scene DNA
Institution:1. Amity Institute of Forensic Sciences, Amity University, Noida, Uttar Pradesh, 201313, India;2. Department of Anthropology, University of Delhi, Delhi, 110007, India;1. Centers for Clinical Investigation, Mass General Brigham, Endicott College, USA;2. Emmanuel College, 400 The Fenway, Boston, MA, 02115, USA;3. Boston Nursing Institute;1. Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands;2. Institute of Forensic Medicine, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia;3. Department of Biology, Indiana University-Purdue University Indianapolis, Indianapolis, IN, USA;1. Malopolska Centre of Biotechnology, Jagiellonian University, Kraków, Poland;2. Faculty of Mathematics and Computer Science, Nicolaus Copernicus University in Toruń, Toruń, Poland;3. Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University, Kraków, Poland;4. Central Forensic Laboratory of the Police, Warsaw, Poland;5. Faculty of Law and Administration, Department of Criminology and Forensic Sciences, University of Warmia and Mazury in Olsztyn, Poland;6. Department of Dermatology, Jagiellonian University Medical College, Kraków, Poland;7. Department of Forensic Medicine, Collegium Medicum of the Nicolaus Copernicus University, Bydgoszcz, Poland;8. Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland;9. Institute of Zoology and Biomedical Research, Faculty of Biology, Jagiellonian University, Kraków, Poland;1. Institute of Zoology and Biomedical Research, Faculty of Biology, Jagiellonian University, Gronostajowa st. 9, 30-387, Kraków, Poland;2. Malopolska Centre of Biotechnology, Jagiellonian University, Gronostajowa st. 7A, 30-387, Kraków, Poland;3. Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences, Beichen West Road 1-104, Chaoyang, Beijing, 100101, PR China;4. University of Chinese Academy of Sciences, 19 Yuquan Road, Shijingshan, Beijing, 100049, PR China;5. Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University, Gronostajowa st. 7, 30-387, Kraków, Poland;6. Department of Biology, Indiana University Purdue University Indianapolis (IUPUI), IN, USA;7. King’s Forensics, Faculty of Life Sciences and Medicine, King’s College London, 150 Stamford Street, London, United Kingdom;8. Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Frederik V''s Vej 11, DK-2100, Copenhagen, Denmark;9. Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, P.O. Box 2040, 3000 CA, Rotterdam, Netherlands;10. Institute of Legal Medicine, Medical Faculty, University of Cologne, Melatengürtel 60/62, D-50823, Cologne, Germany;11. Forensic Genetics Unit, Institute of Forensic Sciences, R/ San Francisco s/n, Faculty of Medicine, 15782, University of Santiago de Compostela, Santiago de Compostela, Spain;12. Division of Biological Traces, Netherlands Forensic Institute, P.O. Box 24044, 2490 AA, The Hague, The Netherlands;13. Zurich Institute of Forensic Medicine, University of Zurich, Winterthurerstrasse 190, 8057, Zurich, Switzerland;14. Institute of Legal Medicine, Medical University of Innsbruck, Müllerstrasse 44, 6020, Innsbruck, Austria;15. Department of Dermatology, Collegium Medicum of the Jagiellonian University, Skawińska st. 8, 31-066, Kraków, Poland;p. Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, KSA, Saudi Arabia;q. Forensic Science Program, The Pennsylvania State University, 13 Thomas Building, University Park, PA, 16802, USA;r. Institute of Legal Medicine, University of Münster, Röntgenstr. 23, 48149, Münster, Germany;s. Chinese Academy of Sciences Key Laboratory of Computational Biology, CAS-MPG Partner Institute for Computational Biology, Shanghai Institute for Biological Sciences, Chinese Academy of Sciences, 320 Yue Yang Road Shanghai, 200031, PR China;t. State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, 2005 Song Hu Road Shanghai, 200438, PR China;u. School of Life Science and Technology, Shanghai-Tech University, 393 Middle Huaxia Road, Pudong, Shanghai, 201210, PR China;v. Queensland Institute of Medical Research, Royal Brisbane Hospital, QLD 4029, Brisbane, Australia;1. University College Freiburg, Albert-Ludwigs-University Freiburg, Freiburg, Germany;2. Institute of Genetic Epidemiology, Dept. of Biometry, Epidemiology and Medical Bioinformatics, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany;3. Institute of Biology I, Dept. of Evolutionary Biology and Ecology, Albert-Ludwigs-University Freiburg, Freiburg, Germany
Abstract:IntroductionForensic DNA Phenotyping (FDP) has provided better understanding of various phenotypic features (e.g., height, skin colour, eye colour, structure and shape of scalp hair, baldness, facial features etc.) and associated genetic variations. The current study was designed to investigate the genetic variants and their potential contribution towards accurate phenotype prediction systems. Short Tandem Repeat (STR) based DNA typing method can be uninformative or with little potential to solve a crime in absence of suspect DNA profile in the database. Forensic DNA Phenotyping (FDP), prediction of externally visible characteristics (EVCs) from the crime scene DNA would certainly provide a new dimension to personal identification. The aim of this review paper is to highlight the significance and future prospects of FDP.ResultsA comprehensive literature review was conducted using PubMed and similar e-databases with keywords from two main components-phenotype and the associated genetic variants. To ensure a thorough literature review, searches were extended using the snowballing technique from reference lists. Key data extracted were type of study, sample characteristics (sample size, age, geographical location and ancestry), details of SNPs studied and prediction accuracies.ConclusionPhenotyping tools based on genotyping and statistical analysis for the prediction of human pigmentation are propitious in solving cold cases. This indicates the inevitability of future studies for the identification of new genetic markers for accurate prediction of phenotype or EVCs via genome-wide association study (GWAS) in diverse global populations.
Keywords:Personal identification  DNA Phenotyping  Externally visible characteristics  STR  SNP  GWAS
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