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The likelihood ratio (LR) is a commonly used measure for determining the strength of forensic match evidence. When a forensic expert determines a high LR for DNA found at a crime scene matching the DNA profile of a suspect they typically…

Applications · Statistics 2020-09-21 Norman Fenton , Allan Jamieson , Sara Gomes , Martin Neil

We describe an expert system, MAIES, developed for analysing forensic identification problems involving DNA mixture traces using quantitative peak area information. Peak area information is represented by conditional Gaussian distributions,…

Artificial Intelligence · Computer Science 2012-07-02 Robert G. Cowell , Steffen L. Lauritzen , Julia Mortera

The "rare type match problem" is the situation in which the suspect's DNA profile, matching the DNA profile of the crime stain, is not in the database of reference. The evaluation of this match in the light of the two competing hypotheses…

Applications · Statistics 2022-05-30 Giulia Cereda , Richard D. Gill

The amount of sequence data obtained from ancient samples has dramatically expanded in the last decade, and so have the types of questions that can now be addressed using ancient DNA. In the field of human history, while ancient DNA has…

Populations and Evolution · Quantitative Biology 2020-01-08 Fernando Racimo , Martin Sikora , Hannes Schroeder , Carles Lalueza-Fox

The Roma people, living throughout Europe, are a diverse population linked by the Romani language and culture. Previous linguistic and genetic studies have suggested that the Roma migrated into Europe from South Asia about 1000-1500 years…

Over the last fifty years, geneticists have made great strides in understanding how our species' evolutionary history gave rise to current patterns of human genetic diversity classically summarized by Lewontin in his 1972 paper, 'The…

Populations and Evolution · Quantitative Biology 2022-02-14 Shyamalika Gopalan , Samuel Patillo Smith , Katharine Korunes , Iman Hamid , Sohini Ramachandran , Amy Goldberg

Mendelian randomization uses genetic variants to make causal inferences about the effect of a risk factor on an outcome. With fine-mapped genetic data, there may be hundreds of genetic variants in a single gene region any of which could be…

Methodology · Statistics 2017-07-10 Stephen Burgess , Verena Zuber , Elsa Valdes-Marquez , Benjamin B Sun , Jemma C Hopewell

Mixture models combine multiple components into a single probability density function. They are a natural statistical model for many situations in astronomy, such as surveys containing multiple types of objects, cluster analysis in various…

Instrumentation and Methods for Astrophysics · Physics 2019-01-30 Michael A. Kuhn , Eric D. Feigelson

DNA sequencing to identify genetic variants is becoming increasingly valuable in clinical settings. Assessment of variants in such sequencing data is commonly implemented through Bayesian heuristic algorithms. Machine learning has shown…

It is now widely accepted that forensic DNA profiles are rare, so it was a surprise to some people that different people represented in offender databases are being found to have the same profile. In the first place this is just an…

Applications · Statistics 2007-12-18 Bruce S. Weir

A database of objects discovered in houses in the Roman city of Pompeii provides a unique view of ordinary life in an ancient city. Experts have used this collection to study the structure of Roman households, exploring the distribution and…

Machine Learning · Computer Science 2012-02-20 David Mimno

This issue includes six articles that develop and apply statistical methods for the analysis of gene sequencing data of different types. The methods are tailored to the different data types and, in each case, lead to biological insights not…

Applications · Statistics 2012-06-29 Karen Kafadar

The persistent issue of wrongful convictions in the United States emphasizes the need for scrutiny and improvement of the criminal justice system. While statistical methods for the evaluation of forensic evidence, including glass,…

Applications · Statistics 2024-03-25 Xiangyu Xu , Giuseppe Vinci

Statistically resolving the underlying haplotype pair for a genotype measurement is an important intermediate step in gene mapping studies, and has received much attention recently. Consequently, a variety of methods for this problem have…

Machine Learning · Computer Science 2007-10-29 Matti Kääriäinen , Niels Landwehr , Sampsa Lappalainen , Taneli Mielikäinen

In genetic studies, haplotype data provide more refined information than data about separate genetic markers. However, large-scale studies that genotype hundreds to thousands of individuals may only provide results of pooled data, where…

Methodology · Statistics 2023-09-01 Yong See Foo , Jennifer A. Flegg

We consider the problem of detecting and estimating the strength of association between a trait of interest and alleles or haplotypes in a small genomic region (e.g. a gene or a gene complex), when no direct information on that region is…

Applications · Statistics 2008-04-11 Rodrigo Labouriau , Poul Sørensen , Helle R. Juul-Madsen

This paper explores a real-world fundamental theme under a data science perspective. It specifically discusses whether fraud or manipulation can be observed in and from municipality income tax size distributions, through their aggregation…

Statistical Finance · Quantitative Finance 2018-05-22 Marcel Ausloos , Roy Cerqueti , Tariq A. Mir

The treatment of short-tandem-repeat (STR) loci on the Y chromosome presents special problems in the forensic analysis of DNA mixtures, chiefly but not exclusively relating to the linkage of Y-STR loci which precludes the use of the…

Applications · Statistics 2019-09-12 Robert G. Cowell

The complementary strands of DNA molecules can be separated when stretched apart by a force; the unzipping signal is correlated to the base content of the sequence but is affected by thermal and instrumental noise. We consider here the…

Biomolecules · Quantitative Biology 2015-05-13 Valentina Baldazzi , Serena Bradde , Simona Cocco , Enzo Marinari , Remi Monasson

Genetic association data from national biobanks and large-scale association studies have provided new prospects for understanding the genetic evolution of complex traits and diseases in humans. In turn, genomes from ancient human…

Populations and Evolution · Quantitative Biology 2021-08-06 Evan K. Irving-Pease , Rasa Muktupavela , Michael Dannemann , Fernando Racimo