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Motivation: Local ancestry inference is a powerful technique in genetics, revealing population history and the genetic basis of diseases. It is particularly valuable for improving eQTL discovery and fine-mapping in admixed populations. Despite the widespread use of the RFMix software for local ancestry inference, large-scale genomic studies face challenges of high memory consumption and processing times when handling RFMix output files.
Results: Here, I present RFMix-reader, a new Python-based parsing software, designed to streamline the analysis of large-scale local ancestry datasets. This software prioritizes computational efficiency and memory optimization, leveraging GPUs when available for additional speed boosts. By overcoming these data processing hurdles, RFMix-reader empowers researchers to unlock the full potential of local ancestry data for understanding human health and health disparities.
Availability: RFMix-reader is freely available on PyPI at https://pypi.org/project/RFMix-reader/, implemented in Python 3, and supported on Linux, Windows, and Mac OS.
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http://dx.doi.org/10.1101/2024.07.13.603370 | DOI Listing |
NAR Genom Bioinform
September 2025
Centre for Integrative Biology and Systems Medicine (IBSE), Wadhwani School of Data Science and AI, Indian Institute of Technology (IIT) Madras, Chennai 600036, India.
Genome graphs provide a powerful reference structure for representing genetic diversity. Their structure emphasizes the polymorphic regions in a collection of genomes, enabling network-based comparisons of population-level variation. However, current tools are limited in their ability to quantify and compare structural features across large genome graphs.
View Article and Find Full Text PDFGenetics
September 2025
Institute of Ecology and Evolution, School of Biological Sciences, The University of Edinburgh, Edinburgh, EH9 3FL, United Kingdom.
Recent advances in methods to infer and analyse ancestral recombination graphs (ARGs) are providing powerful new insights in evolutionary biology and beyond. Existing inference approaches tend to be designed for use with fully-phased datasets, and some rely on model assumptions about demography and recombination rate. Here I describe a simple model-free approach for genealogical inference along the genome from unphased genotype data called Sequential Tree Inference by Collecting Compatible Sites (sticcs).
View Article and Find Full Text PDFPsychoneuroendocrinology
August 2025
Laboratory of Physiological Genomics of Mental Health (PhysioGen Lab), Instituto de Ciencias Biomedicas, Universidade de Sao Paulo, São Paulo, Brazil. Electronic address:
Altered cortisol regulation is implicated in Attention-Deficit/Hyperactivity Disorder (ADHD), but causality remains debated. While meta-analyses suggest that lower basal cortisol levels, especially in the morning, correlate with ADHD, study heterogeneity prompts further inquiry. Leveraging post-genome-wide association approaches, we examined morning cortisol levels (n = 25,314) and ADHD (n = 225,543).
View Article and Find Full Text PDFEvolutionary biology has long recognized the tendency for populations to be locally adapted to their ancestral habitat, resulting in higher resident fitness. However, immigrants can also introduce beneficial alleles. The resulting adaptive introgression is usually inferred retrospectively, rather than as a contemporary process.
View Article and Find Full Text PDFbioRxiv
August 2025
Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.
Polygenic scores (PGS) have promising clinical applications for risk stratification, disease screening, and personalized medicine. However, most PGS are trained on predominantly European ancestry cohorts and have limited portability to external populations. While cross-population PGS methods have demonstrated greater generalizability than single-ancestry PGS, they fail to properly account for individuals with recent admixture between continental ancestry groups.
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