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Motivation: Ancestry and Kinship Toolkit (AKT) is a statistical genetics tool for analysing large cohorts of whole-genome sequenced samples. It can rapidly detect related samples, characterize sample ancestry, calculate correlation between variants, check Mendel consistency and perform data clustering. AKT brings together the functionality of many state-of-the-art methods, with a focus on speed and a unified interface. We believe it will be an invaluable tool for the curation of large WGS datasets.
Availability And Implementation: The source code is available at https://illumina.github.io/akt CONTACTS: joconnell@illumina.com or rudy.d.arthur@gmail.comSupplementary information: Supplementary data are available at Bioinformatics online.
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http://dx.doi.org/10.1093/bioinformatics/btw576 | DOI Listing |
Hum Mol Genet
August 2025
School of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT), Universidad del Rosario, Carrera 24 No. 63C-69, Bogotá D.C. 111221, Colombia.
Rare genetic diseases pose significant diagnostic challenges, especially in geographically isolated populations where consanguinity, founder effects, and novel variants often influence disease patterns. Whole-exome sequencing (WES) is standard practice for rare disease diagnostics, but its limited coverage of noncoding regions limits inheritance-by-descent (IBD) and Runs of Homozygosity (RoH) inference. In this study, we tested an imputation-enhanced IBD and RoH detection method using WES data of 84 individuals from 51 families in Boyacá, Colombia-an Andean region with complex admixed American ancestry.
View Article and Find Full Text PDFiScience
August 2025
University Turku, Department of Biology, Turku, Finland.
We investigated ancestry, kinship, and health in individuals from three cemeteries in Finland: Tampere Vilusenharju and Pälkäne Ristiänmäki (11th-12th centuries) and Rauniokirkko (13th-19th century). The oldest burials provide insights into Finland's medieval population, otherwise poorly known due to poor bone preservation. Using ancient genomic data, contemporary Finnish Biobank data, and identity-by-descent (IBD) analyses, we identified strong regional continuity between the medieval and modern Finnish populations and evidence for mobility within Finland and between Finland and Scandinavia.
View Article and Find Full Text PDFGene
September 2025
Guangzhou Key Laboratory of Forensic Multi-Omics for Precision Identification, School of Forensic Medicine, Southern Medical University, Guangzhou, Guangdong 510515, China; Microbiome Medicine Center, Department of Laboratory Medicine, Zhujiang Hospital, Southern Medical University, Guangzhou, Guang
Insertion/deletion (InDel) polymorphisms show promising applications in the field of forensic genetics, such as ancestry inference and complex kinship identification. In the present study, we investigated the genetic polymorphisms and forensic parameters of Chinese Baoan group based on three panels, and explored the genetic connections between the Baoan group and 26 intercontinental reference populations. Based on simulated genotyping data constructed from allele frequencies of 150 loci, the study utilized the likelihood ratio (LR) method and identical by state (IBS) method to assess the system efficacy of different panels and identification of complex kinships with the increase in the number of genetic markers.
View Article and Find Full Text PDFGenes (Basel)
April 2025
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.
Microhaplotypes (MHs) are a novel class of genetic markers, exhibiting features that position them as an alternative to STRs and SNPs in addressing challenges commonly encountered in forensic investigations. Additionally, MHs can also offer valuable insights for ancestry inference. However, due to the novelty of MHs, extensive research in different global populations is required before implementation in forensic casework and general research.
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