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African populations have been drastically underrepresented in genomics research, and failure to capture the genetic diversity across the numerous ethnolinguistic groups (ELGs) found on the continent has hindered the equity of precision medicine initiatives globally. Here, we describe the whole-genome sequencing of 449 Nigerian individuals across 47 unique self-reported ELGs. Population structure analysis reveals genetic differentiation among our ELGs, consistent with previous findings. From the 36 million SNPs and insertions or deletions (indels) discovered in our dataset, we provide a high-level catalog of both novel and medically relevant variation present across the ELGs. These results emphasize the value of this resource for genomics research, with added granularity by representing multiple ELGs from Nigeria. Our results also underscore the potential of using these cohorts with larger sample sizes to improve our understanding of human ancestry and health in Africa.
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http://dx.doi.org/10.1016/j.xgen.2023.100378 | DOI Listing |
Circ Genom Precis Med
September 2025
Feinberg School of Medicine, Northwestern University, Chicago, IL (Z.C., P.G., A.G., G.W.).
Background: Genetic variation contributes to atrial fibrillation (AF), but its impact may vary with age. The Research Program contains whole-genome sequencing of data from 100 574 adult participants with linked electronic health records.
Methods: We assessed clinical, monogenic, and polygenic associations with AF in a cross-sectional analysis, stratified by age: <45 years (n=22 290), 45 to 60 years (n=26 805), and >60 years (n=51 659).
J Assist Reprod Genet
September 2025
UFR-SVS, UVSQ, 78180, Montigny Le Bretonneux, France.
Introduction: Complex chromosomal rearrangements (CCRs) are frequently associated with infertility and have been described in the literature. Chromoanagenesis corresponds to a group of CCRs with a high number of chromosome breakpoints. These CCRs involving small structural variations can only be identified by using high-resolution genomic techniques.
View Article and Find Full Text PDFTheor Appl Genet
September 2025
Institute for Breeding Research on Agricultural Crops, Julius Kühn Institute (JKI) - Federal Research Centre for Cultivated Plants, Sanitz, 18190, Germany.
Low-cost and high-throughput RNA sequencing data for barley RILs achieved GP performance comparable to or better than traditional SNP array datasets when combined with parental whole-genome sequencing SNP data. The field of genomic selection (GS) is advancing rapidly on many fronts including the utilization of multi-omics datasets with the goal of increasing prediction ability and becoming an integral part of an increasing number of breeding programs ensuring future food security. In this study, we used RNA sequencing (RNA-Seq) data to perform genomic prediction (GP) on three related barley RIL populations.
View Article and Find Full Text PDFSignal Transduct Target Ther
September 2025
Institute of Neuroscience, Center for Excellence in Brain Science and Intelligence Technology, Chinese Academy of Sciences, Shanghai, China.
Essential tremor (ET) is a common neurological disease that is characterized by 4-12 Hz kinetic tremors of the upper limbs and high genetic heterogeneity. Although numerous candidate genes and loci have been reported, the etiology of ET remains unclear. A novel ET-related gene was initially identified in a five-generation family via whole-exome sequencing, and other variants were identified in 772 familial ET probands and 640 sporadic individuals via whole-genome sequencing.
View Article and Find Full Text PDFGenome Res
September 2025
College of Life Science, Sichuan Agricultural University, Ya'an, 625014, People's Republic of China;
Poultry egg production is shaped by the intertwined action of multiple physiological systems, greatly magnifying the complexity of its underlying genetic regulation. Although multitissue mapping of regulatory variants offers a powerful route to untangle this complexity, comprehensive data sets in ducks remain scarce. Meanwhile, the contributions of peripheral systems beyond neuroendocrine regulation on poultry egg production are still largely unexplored.
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