Forensic and Genetic Research

Y-profile evidence: close paternal relatives and mixtures

The paper validates and extends a simulation-based approach for evaluating Y-profile evidence, incorporating relative data and mixture analysis.

Genotype fingerprints enable fast and private comparison of genetic testing results for research and direct-to-consumer applications

Scale-invariant geometric data analysis (SIGDA) provides robust, detailed visualizations of human ancestry specific to individuals and populations

SIGDA provides detailed, robust visualizations of human ancestry and population structure from genetic data, outperforming PCA in detecting population axes and relationships.

Forensic STR profiling using Oxford Nanopore Technologies’ MinION sequencer

This study evaluates the use of Oxford Nanopore MinION sequencer for forensic STR profiling using standard primers and shows it can generate partial forensic profiles despite high error rates.

Paleolithic DNA from the Caucasus reveals core of West Eurasian ancestry

This paper analyzes ancient DNA from the Caucasus to show that a population around 26,000 years ago contributed significantly to modern West Eurasian ancestry.

Emergent populations derived with unsupervised learning of human whole genomes

This paper uses unsupervised machine learning to classify human genetic heritages and identifies previously unrecognized population strata in Japan.

Genetic structure and sex-biased gene flow in the history of southern African populations

The paper investigates the genetic history of southern African populations, finding an eastern African origin for Y-chromosome haplogroup E1b1b and significant sex-biased gene flow during the Bantu expansion.

Population history of the Sardinian people inferred from whole-genome sequencing

This study uses whole-genome sequencing of 3,514 Sardinians to explore population history, finding genetic isolation in the Gennargentu region and sex-biased demographic patterns.

Inference and visualization of DNA damage patterns using a grade of membership model

This paper introduces a grade of membership model to infer and visualize DNA damage patterns in ancient DNA, distinguishing ancient from modern samples and contamination.

Cultural Innovations influence patterns of genetic diversity in Northwestern Amazonia

The paper analyzes NRY and mtDNA data from Northwestern Amazonia to show how cultural practices like exogamy and residential rules influence genetic diversity patterns and demographic history.

A comprehensive map of genetic variation in the world’s largest ethnic group - Han Chinese

This study presents a comprehensive catalog of genetic variation in Han Chinese using whole-genome sequencing, revealing population structure, admixture, and loci under local adaptation.

Understanding 6th-Century Barbarian Social Organization and Migration through Paleogenomics

The paper analyzes ancient genomic DNA from two cemeteries associated with the Longobards to study social organization and migration patterns in 6th-century Europe.

Inferring Population Structure and Admixture Proportions in Low Depth NGS Data

The paper presents two methods for inferring population structure and admixture proportions in low depth NGS data using PCAngsd framework.

In-solution Y-chromosome capture-enrichment on ancient DNA libraries

This study applies Y-chromosome capture-enrichment to ancient DNA libraries, showing increased recovery of Y-DNA sequences and enabling haplogroup assignment.

TranslucentID: Detecting Individuals with High Confidence in Saturated DNA SNP Mixtures

TranslucentID identifies contributors in saturated DNA SNP mixtures by desaturating them using minor allele ratios, improving detection confidence in forensic analysis.

A tutorial on how (not) to over-interpret STRUCTURE/ADMIXTURE bar plots

The paper demonstrates how to assess the reliability of genetic clustering results from STRUCTURE/ADMIXTURE using simulated and real data with badMIXTURE.

Ancestral heterogeneity of ancient Eurasians

This study reanalyzes ancient Eurasian DNA data using a broader reference panel, revealing greater ancestral heterogeneity and new insights into population movements and ancestry transitions.

The Evolutionary Genomic Dynamics of Peruvians Before, During, and After the Inca Empire

This study sequenced and analyzed genomes from Native American and mestizo populations in Peru to reconstruct their demographic history and genetic admixture patterns.

SNP Selection and Concordance in Consumer Genetics Testing

This paper compares SNP selection and concordance across three DTC genetic testing platforms, finding low SNP overlap and platform-specific strategies for ancestry determination.

Re-identification of genomic data using long range familial searches

This study investigates the ability to re-identify individuals through long-range familial searches in consumer genomics databases, finding that half of European-descent searches could yield close matches enabling re-identification.

Loter: A software package to infer local ancestry for a wide range of species

Loter is a software package for local ancestry inference across species, showing robustness to admixture time and outperforming existing tools in simulations.

Mito-nuclear effects uncovered in admixed populations

The paper investigates mito-nuclear incompatibility in admixed populations, finding that mtDNA copy number decreases with increasing discordance between nuclear and mitochondrial ancestry.

Linkage disequilibrium connects genetic records of relatives typed with disjoint genomic marker sets

The paper shows linkage disequilibrium can identify relatives using nonoverlapping genetic markers, with 30-36% accuracy for parent-offspring and sib pairs.

Ancient genomes from North Africa evidence prehistoric migrations to the Maghreb from both the Levant and Europe

This paper analyzes ancient genomes from North Africa to show prehistoric migrations brought genetic influences from both the Levant and Europe to the Maghreb.

A stainless-steel mortar, pestle and sleeve design for the efficient fragmentation of ancient bone

This paper introduces a stainless-steel mortar and pestle design for efficient ancient bone fragmentation, improving sample throughput and ease of use.

Non-Parametric Estimation Of Population Size Changes From The Site Frequency Spectrum

This paper introduces CubSFS, a method to estimate population size changes from the site frequency spectrum using cubic splines and validates it on simulated and human population data.

Characterizing the genetic history of admixture across inner Eurasia

This study analyzes genome-wide data from inner Eurasian populations to characterize genetic admixture patterns and their historical context.

Genetic analysis of Sephardic ancestry in the Iberian Peninsula

The paper analyzes genome-wide SNP data to assess Sephardic ancestry in Iberian Peninsula populations and surrounding regions, finding evidence of recent Sephardic admixture and challenges in ancestry assignment.

Ancient genomes document multiple waves of migration in Southeast Asian prehistory

The paper analyzes ancient DNA from Southeast Asia to show multiple waves of migration, including an initial spread of Austroasiatic languages and a later influx linked to Bronze Age populations.

11 Million SNP Reference Profiles for Identity Searching Across Ethnicities, Kinship, and Admixture

The paper creates a reference dataset of 11 million SNP profiles for DNA forensics applications across diverse ethnicities, kinship, and admixture.