TY - CHAP
T1 - A Survey of Methods and Tools for Large-Scale DNA Mixture Profiling
AU - Alamoudi, Emad
AU - Mehmood, Rashid
AU - Albeshri, Aiiad
AU - Gojobori, Takashi
N1 - KAUST Repository Item: Exported on 2021-04-21
Acknowledgements: The work carried out in this chapter is supported by the HPC Center at the King Abdulaziz University.
PY - 2019/6/21
Y1 - 2019/6/21
N2 - DNA typing or profiling is being widely used for criminal identification, paternity tests, and diagnosis of genetic diseases. DNA typing is considered one of the hardest problems in the forensic science domain, and it is an active area of research. The computational complexity of DNA typing increases significantly with the number of unknowns in the mixture and has been the major deterring factor holding its advancements and applications. In this chapter, we provide an extended review of DNA profiling methods and tools with a particular focus on their computational performance and accuracy. The process of DNA profiling within the broader context of forensic science and genetics is explained. The various classes of DNA profiling methods including general methods, and those based on maximum likelihood estimators, are reviewed. The reviewed DNA profiling tools include LRmix Studio, TrueAllele, DNAMIX V.3, Euroformix, CeesIt, NOCIt, DNAMixture, Kongoh, LikeLTD, LabRetriever, and STRmix. A review of high-performance computing literature in bioinformatics and HPC frameworks is also given. Faster interpretations of DNA mixtures with a large number of unknowns and higher accuracies are expected to open up new frontiers for this area.
AB - DNA typing or profiling is being widely used for criminal identification, paternity tests, and diagnosis of genetic diseases. DNA typing is considered one of the hardest problems in the forensic science domain, and it is an active area of research. The computational complexity of DNA typing increases significantly with the number of unknowns in the mixture and has been the major deterring factor holding its advancements and applications. In this chapter, we provide an extended review of DNA profiling methods and tools with a particular focus on their computational performance and accuracy. The process of DNA profiling within the broader context of forensic science and genetics is explained. The various classes of DNA profiling methods including general methods, and those based on maximum likelihood estimators, are reviewed. The reviewed DNA profiling tools include LRmix Studio, TrueAllele, DNAMIX V.3, Euroformix, CeesIt, NOCIt, DNAMixture, Kongoh, LikeLTD, LabRetriever, and STRmix. A review of high-performance computing literature in bioinformatics and HPC frameworks is also given. Faster interpretations of DNA mixtures with a large number of unknowns and higher accuracies are expected to open up new frontiers for this area.
UR - http://hdl.handle.net/10754/668875
UR - http://link.springer.com/10.1007/978-3-030-13705-2_9
UR - http://www.scopus.com/inward/record.url?scp=85080864358&partnerID=8YFLogxK
U2 - 10.1007/978-3-030-13705-2_9
DO - 10.1007/978-3-030-13705-2_9
M3 - Chapter
SN - 9783030137045
SP - 217
EP - 248
BT - Smart Infrastructure and Applications
PB - Springer International Publishing
ER -