Estimation of ancestral affiliation for human genotypes is now possible for major geographic populations and has been employed for forensic casework. Prediction algorithms, such as the Snipper Bayesian classifier, have the ability to classify non-admixed BGA in African (AFR), European (EUR), East Asian (EAS), and most Amerindian (NAM) individuals, but are not always appropriate for admixed individuals. Artificial admixture was simulated for all possible admixture ratios (1:1, 3:1, 2:1:1, and 1:1:1:1) from four grandparents. The simulated genotypes were used to test the accuracy of various prediction algorithms, most successful of which were the population genetics program, STRUCTURE, and a novel genetic distance algorithm (GDA). STRUCTURE was ideal for admixed individuals with 1:1 and 3:1 ratios from AFR, EUR, EAS, and NAM reference populations. Individuals with 1:1:1:1 BGA proportions were more accurately predicted by GDA. The use of hypothetical root genotypes improved the accuracy of GDA predictions for 1:1 and 3:1 admixtures and STRUCTURE classification of 1:1:1:1 admixture. The GDA requires only allele or genotype frequency values from each reference population, which offers a simpler sampling and input formatting procedure than is required by STRUCTURE. It can also be implemented in a spreadsheet without the need for long run times.
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http://dx.doi.org/10.1016/j.fsigen.2018.06.013 | DOI Listing |
Structural variants (SVs) drive gene expression in the human brain and are causative of many neurological conditions. However, most existing genetic studies have been based on short-read sequencing methods, which capture fewer than half of the SVs present in any one individual. Long-read sequencing (LRS) enhances our ability to detect disease-associated and functionally relevant structural variants (SVs); however, its application in large-scale genomic studies has been limited by challenges in sample preparation and high costs.
View Article and Find Full Text PDFThe admixture model is widely applied to estimate and interpret population structure among individuals. Here we consider a "standard admixture" model that assumes the admixed populations are unrelated and also a generalized model, where the admixed populations themselves are related via coancestry (or covariance) of allele frequencies. The generalized model yields a potentially more realistic and substantially more flexible model that we call "super admixture".
View Article and Find Full Text PDFForensic Sci Int Genet
December 2024
DNA Diagnostic Laboratory, Institute of Biology Roberto Alcantara Gomes, State University of Rio de, Rio de Janeiro 20550-900, Brazil.
Latin American countries are distinguished by their highly admixed populations, characterized by a significant preservation of Native American matrilineal ancestry. This contrasts with the paternal lineages, which exhibit different patterns due to pronounced sex-biased mating practices during the colonial period. Uniparental genetic markers have been instrumental in population genetics, facilitating the reconstruction of human settlement histories and serving forensic identification purposes.
View Article and Find Full Text PDFMalays J Pathol
December 2024
Kawasaki Medical School, Department of Pathology, Okayama, Japan.
Trichoblastic carcinoma, trichoblastoma, trichoepithelioma, and basal cell carcinoma are histologically characterised by basaloid cell proliferation. In this report, we describe the case of a 76-year-old man who presented with trichoblastic carcinoma admixed with histological features of trichoblastoma, trichoepithelioma, and basal cell carcinoma. These tumours may not be situated separately but must be related to each other in terms of tumorigenesis.
View Article and Find Full Text PDFOphthalmic Plast Reconstr Surg
January 2025
The Operation Eyesight Universal Institute for Eye Cancer, Ophthalmic Pathology Laboratory, LV Prasad Eye Institute, Hyderabad, India.
A 40-year-old woman presented with a mass in her OS for 2 years. Examination revealed a large conjunctival lesion on the nasal bulbar conjunctiva OS and a small upper tarsal conjunctival lesion in the OD. Biopsy OD revealed inflammatory granulation tissue, and OS revealed pseudoepitheliomatous hyperplasia with granulation tissue.
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