Genetic Analysis Workshop 17 (GAW17) provided a platform for evaluating existing statistical genetic methods and for developing novel methods to analyze rare variants that modulate complex traits. In this article, we present an overview of the 1000 Genomes Project exome data and simulated phenotype data that were distributed to GAW17 participants for analyses, the different issues addressed by the participants, and the process of preparation of manuscripts resulting from the discussions during the workshop.
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http://dx.doi.org/10.1186/1753-6561-5-S9-S1 | DOI Listing |
Cureus
December 2024
University of Florida Health Congenital Heart Center, University of Florida College of Medicine, Gainesville, USA.
Anomalous aortic origin of a coronary artery (AAOCA) comprises a set of rare congenital abnormalities in the origin or path of the coronary arteries with highly variable clinical implications. This is a pilot feasibility study where we investigated the influence of the anomalous coronary artery inlet architecture on coronary perfusion using coronary blood flow computational simulations to help predict the risk for coronary ischemia in patients with anomalous aortic origin of the right coronary artery (AAORCA) with these types of anomalous coronary artery inlet architectures. We developed a protocol for generating 3D models of patient coronary artery anatomies from an IRB-approved dataset of cardiac CT images of patients with AAORCA at our institution.
View Article and Find Full Text PDFJBMR Plus
February 2025
Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki 00014, Finland.
Hypophosphatemic rickets is a rare bone disease characterized by short stature, bone deformities, impaired bone mineralization, and dental problems. Most commonly, hypophosphatemic rickets is caused by pathogenic variants in the X-chromosomal gene, but autosomal dominant and recessive forms also exist. We investigated a Finnish family in which the son (index, 29 yr) and mother (56 yr) had hypophosphatemia since childhood.
View Article and Find Full Text PDFNaxos disease is a rare autosomal recessive condition combining arrhythmogenic right ventricular cardiomyopathy, woolly hair, and palmoplantar keratoderma. The first identified causative variant was in the gene encoding the desmosomal protein plakoglobin. Naxos disease exhibits fibro-fatty myocardial replacement with immunohistological abnormalities in cardiac protein and signaling pathways, highlighting the role of inflammation and potential anti-inflammatory treatments.
View Article and Find Full Text PDFFront Immunol
January 2025
National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
[This corrects the article DOI: 10.3389/fimmu.2024.
View Article and Find Full Text PDFMol Ther Nucleic Acids
March 2025
NYU Cardiovascular Research Center, NYU Grossman School of Medicine, New York, NY 100016, USA.
Altered protein conformation can cause incurable neurodegenerative disorders. Mutations in , the gene encoding neuroserpin, can alter protein conformation resulting in cytotoxic aggregation leading to neuronal death. Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a rare autosomal dominant progressive myoclonic epilepsy that progresses to dementia and premature death.
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