Ancestry inference of admixed populations is an important issue in anthropology and studies of gene discovery, and characterization. Usually, local ancestor inference (LAI) methods use fixed-length windows to divide chromosomes into smaller blocks. The accuracy of LAI algorithms will decrease if a window with an inappropriate length is used to infer the ancestry of admixed individuals. In this study, we first present a heuristic function to determine a proper window length for LAI methods. This heuristic is based on the distance between the ancestral populations of admixed individuals. Then we introduce a method for ancestry inference of admixed population with deep conditional random field (AICRF). AICRF uses a conditional random field (CRF) parameterized by probable extreme learning machines (PELMs) trained on reference panels where PELM is a novel probabilistic ELM classifier. This method does not require many statistical or biological parameters. We evaluate the performance of AICRF in comparison with RFMix. Experimental results show that AICRF is more accurate than RFMix with increasing admixture times.
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Genetics
January 2025
Department of Archaeogenetics, Max Planck Institute for Evolutionary Anthropology, Leipzig 04317, Germany.
Long, identical haplotypes shared between pairs of individuals, known as identity-by-descent (IBD) segments, result from recently shared co-ancestry. Various methods have been developed to utilize IBD sharing for demographic inference in contemporary DNA data. Recent methodological advances have extended the screening for IBD segments to ancient DNA (aDNA) data, making demographic inference based on IBD also possible for aDNA.
View Article and Find Full Text PDFGenome Biol Evol
January 2025
Department of Biomedical Informatics, University of Pittsburgh, Pittsburgh, PA, USA 15219.
Homology is a key concept underpinning the comparison of sequences across organisms. Sequence-level homology is based on a statistical framework optimized over decades of work. Recently, computational protein structure prediction has enabled large-scale homology inference beyond the limits of accurate sequence alignment.
View Article and Find Full Text PDFFront Genet
January 2025
Department of Neurology, West China Hospital, Sichuan University, Chengdu, China.
Background: Previous observational studies have shown that Hypothyroidism is associated with Von Willebrand Disease (VWD), but the causal relationship has not been confirmed because of conflicting findings and confounding by mixing factors. There are also some studies suggesting that polyunsaturated fatty acids (PUFA) may be one of the potential mediators. In this study, we used a Mendelian randomization study to analyze the causal relationship between Hypothyroidism and VWD and to investigate whether polyunsaturated fatty acids mediate the effects of Hypothyroidism on VWD.
View Article and Find Full Text PDFJ Affect Disord
January 2025
Department of Environmental Genomics, School of Public Health, Nanjing Medical University, Nanjing, China; Department of Genetic Toxicology, The Key Laboratory of Modern Toxicology of Ministry Education, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, China. Electronic address:
Background: The co-occurrence of smoking behaviors and major depressive disorder (MDD) has been widely documented in populations. However, the underlying mechanism of this association remains unclear.
Methods: Genome-wide association studies of smoking behaviors and MDD, combined with multi-omics datasets, were usedto characterise genetic correlations, identify shared loci and genes, and explore underlying biological mechanisms.
BMC Biol
January 2025
Institute of Rare Diseases, Frontiers Science Center for Disease-Related Molecular Network, West China Hospital, Sichuan University, Chengdu, 610000, Sichuan, China.
Background: The advancements in second-/third-generation sequencing technologies, alongside computational innovations, have significantly enhanced our understanding of the genomic structure of Y-chromosomes and their unique phylogenetic characteristics. These researches, despite the challenges posed by the lack of population-scale genomic databases, have the potential to revolutionize our approach to high-resolution, population-specific Y-chromosome panels and databases for anthropological and forensic applications.
Objectives: This study aimed to develop the highest-resolution Y-targeted sequencing panel, utilizing time-stamped, core phylogenetic informative mutations identified from high-coverage sequences in the YanHuang cohort.
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