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We describe the MalariaGEN Pf7 data resource, the seventh release of genome variation data from the MalariaGEN network. It comprises over 20,000 samples from 82 partner studies in 33 countries, including several malaria endemic regions that were previously underrepresented. For the first time we include dried blood spot samples that were sequenced after selective whole genome amplification, necessitating new methods to genotype copy number variations. We identify a large number of newly emerging mutations in parts of Southeast Asia, and show examples of heterogeneities in patterns of drug resistance within Africa and within the Indian subcontinent. We describe the profile of variations in the C-terminal of the gene and relate this to the sequence used in the RTS,S and R21 malaria vaccines. Pf7 provides high-quality data on genotype calls for 6 million SNPs and short indels, analysis of large deletions that cause failure of rapid diagnostic tests, and systematic characterisation of six major drug resistance loci, all of which can be freely downloaded from the MalariaGEN website.
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http://dx.doi.org/10.12688/wellcomeopenres.18681.1 | 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).
Brain Behav
September 2025
The National Clinical Research Center for Mental Disorders & Beijing Key Laboratory of Mental Disorders, Beijing Anding Hospital, Capital Medical University, Beijing, China.
Background: Diverse correlations between structural brain abnormalities and the clinical feature of bulimia nervosa (BN) have been identified in previous observational studies.
Objective: To explore the bidirectional causality between BN and brain structural magnetic resonance imaging (MRI) phenotypes.
Methods: Genome-wide association studies (GWAS) of 2441 participants identified genetic variants associated with disordered eating and predicted BN, whereas UK Biobank 3D-T1 MRI data were used to analyze brain structural phenotypes.
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 PDFMol Psychiatry
September 2025
Section on Clinical Genomics and Experimental Therapeutics, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Bethesda, MD, USA.
Pharmacological modulation of glucagon-like peptide-1 (GLP-1) and glucose-dependent insulinotropic polypeptide (GIP) through dual GIP/GLP-1 receptor agonists, commonly used for diabetes and obesity, shows promise in reducing alcohol consumption. We applied drug-target Mendelian randomization (MR) using genetic variation at these loci to assess their long-term effects on problematic alcohol use (PAU), binge drinking, alcohol misuse classifications, liver health, and other substance use behaviors. Genetic proxies for lowered BMI, modeling the appetite-suppressing and weight-reducing effects of variants in both the GIPR and GLP1R loci ("GIPR/GLP1R"), were linked with reduced binge drinking in the primary (β = -0.
View Article and Find Full Text PDFTheor Appl Genet
September 2025
Leibniz Institute of Plant Genetics and Crop Research (IPK), 06466, Gatersleben, Germany.
To breed for climate resilient crops, an understanding of the genetic and environmental factors influencing adaptation is critical. Barley provides a model species to study adaptation to climate change. Here we present a detailed analysis of genetic variation at a major photoperiod response locus and relate this to the domestication history and dispersal of barley.
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