title: Familias 3 - Extensions and new functionality.
abstract: In relationship testing the aim is to determine the most probable pedigree structure given genetic marker data for a set of persons. Disaster Victim Identification (DVI) based on DNA data from presumed relatives of the missing persons can be considered to be a collection of relationship problems. Forensic calculations in investigative mode address questions like "How many markers and reference persons are needed?" Such questions can be answered by simulations. Mutations, deviations from Hardy-Weinberg Equilibrium (or more generally, accounting for population substructure) and silent alleles cannot be ignored when evaluating forensic evidence in case work. With the advent of new markers, so called microvariants have become more common. Previous mutation models are no longer appropriate and a new model is proposed. This paper describes methods designed to deal with DVI problems and a new simulation model to study distribution of likelihoods. There are softwares available, addressing similar problems. However, for some problems including DVI, we are not aware of freely available validated software. The Familias software has long been widely used by forensic laboratories worldwide to compute likelihoods in relationship scenarios, though previous versions have lacked desired functionality, such as the above mentioned. The extensions as well as some other novel features have been implemented in the new version, freely available at www.familias.no. The implementation and validation are briefly mentioned leaving complete details to Supplementary sections.
authors.affiliation: Department of Family Genetics, Norwegian Institute of Public Health, Oslo, Norway; Department for Chemistry, Biotechnology and Food Science, Norwegian University of Life Sciences, Aas, Norway. Electronic address: daniel.kling@fhi.no.
authors.forename: Daniel
authors.initials: D
authors.lastname: Kling
authors.affiliation: Department of Forensic Genetics and Forensic Toxicology, National Board of Forensic Medicine, Linköping, Sweden; Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, Linköping, Sweden. Electronic address: andreas.tillmar@rmv.se.
authors.forename: Andreas O
authors.initials: AO
authors.lastname: Tillmar
authors.affiliation: Department for Chemistry, Biotechnology and Food Science, Norwegian University of Life Sciences, Aas, Norway; Department of Forensic Genetics, Norwegian Institute of Public Health, Oslo, Norway. Electronic address: thore.egeland@nmbu.no.
authors.forename: Thore
authors.initials: T
authors.lastname: Egeland
mesh_terms: D016172:DNA Fingerprinting; D004190:Disasters; D005190:Family; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D016013:Likelihood Functions; D008957:Models, Genetic; D010375:Pedigree; D012984:Software
keywords: Disaster victim identification; Familias; Likelihood computations; Mutation; Paternity; Simulation