Summary: Multiplexed assays of variant effect (MAVEs) are capable of experimentally testing all possible single nucleotide or amino acid variants in selected genomic regions, generating 'variant effect maps', which provide biochemical insight and functional evidence to enable more rapid and accurate clinical interpretation of human variation. Because the international community applying MAVE approaches is growing rapidly, we developed the online MaveRegistry platform to catalyze collaboration, reduce redundant efforts, allow stakeholders to nominate targets and enable tracking and sharing of progress on ongoing MAVE projects.
Availability And Implementation: MaveRegistry service: https://registry.varianteffect.org. MaveRegistry source code: https://github.com/kvnkuang/maveregistry-front-end.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8504617 | PMC |
| http://dx.doi.org/10.1093/bioinformatics/btab215 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Swimming induces a physiological cardioprotection associated with pro-growth anti-inflammatory influences in extra-cardiac organs.
Am J Physiol Regul Integr Comp Physiol
December 2024
Curtin University, Curtin Medical Research Institute (Bentley, WA, AUSTRALIA).
Physical activity improves myocardial structure, function and resilience via complex, incompletely defined mechanisms. We explored effects of 1-2 wks swim training on cardiac and systemic phenotype in young male C57Bl/6 mice. Two wks forced swimming (90 min twice daily) resulted in cardiac hypertrophy (22% increase in heart:body weight, P<0.
View Article and Find Full Text PDFClinical Characteristics and Laboratory Diagnoses of Pediatric Patients Hospitalized During an Outbreak of Mycoplasma pneumoniae.
APMIS
January 2025
Department of Clinical Laboratory, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China.
This study prospectively collected the clinical data, information on respiratory pathogens, and laboratory findings of children with Mycoplasma pneumoniae (M. pneumonia) infection who were hospitalized at the First Affiliated Hospital of Anhui Medical University during the M. pneumoniae outbreak in Hefei City, Anhui Province, China, between October 2023 and December 2023.
View Article and Find Full Text PDFTime-resolved single-cell secretion analysis microfluidics.
Lab Chip
January 2025
Department of Biomedical Engineering, City University of Hong Kong, 83 Tat Chee Avenue, Kowloon Tong, Hong Kong, China.
Revealing how individual cells alter their secretions over time is crucial for understanding their responses to environmental changes. Key questions include: When do cells modify their functions and states? What transitions occur? Insights into the kinetic secretion trajectories of various cell types are essential for unraveling complex biological systems. This review highlights seven microfluidic technologies for time-resolved single-cell secretion analysis: 1.
View Article and Find Full Text PDFFirst report of causing bacteria wilt on eucalyptus in Brazil.
Plant Dis
January 2025
Microbiology, Campus Universitário s/n, Viçosa, Minas Gerais, Brazil, 36570-000;
The Ralstonia solanacearum Species Complex (RSSC) is the most significant plant pathogen group with a wide host range. It is genetically related but displays distinct biological features, such as restrictive geography occurrence. The RSSC comprises three species: Ralstonia pseudosolanacearum (phylotype I and III), Ralstonia solanacearum (phylotype IIA and IIB), and Ralstonia syzygii (phylotype IV) (Fegan and Prior 2005).
View Article and Find Full Text PDFGenotyping as Part of Routine Clinical Care-The Outcomes for a Large Paediatric Vascular Anomaly Cohort.
Am J Med Genet A
January 2025
Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Australia.
We describe the phenotypic and genotypic spectrum of patients with vascular anomaly (VA) in a paediatric multi-disciplinary VA clinic. We measured the clinical utility of genotyping by comparing pre and posttest diagnosis and management. A 46-month retrospective analysis occurred for 250 patients offered genetic testing in the VA clinic.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!