GenoTools, a Python package, streamlines population genetics research by integrating ancestry estimation, quality control, and genome-wide association studies capabilities into efficient pipelines. By tracking samples, variants, and quality-specific measures throughout fully customizable pipelines, users can easily manage genetics data for large and small studies. GenoTools' "Ancestry" module renders highly accurate predictions, allowing for high-quality ancestry-specific studies, and enables custom ancestry model training and serialization specified to the user's genotyping or sequencing platform. As the genotype processing engine that powers several large initiatives, including the NIH's Center for Alzheimer's and Related Dementias and the Global Parkinson's Genetics Program, GenoTools was used to process and analyze the UK Biobank and major Alzheimer's disease and Parkinson's disease datasets with over 400,000 genotypes from arrays and 5,000 whole genome sequencing samples and has led to novel discoveries in diverse populations. It has provided replicable ancestry predictions, implemented rigorous quality control, and conducted genetic ancestry-specific genome-wide association studies to identify systematic errors or biases through a single command. GenoTools is a customizable tool that enables users to efficiently analyze and scale genotyping and sequencing (whole genome sequencing and exome) data with reproducible and scalable ancestry, quality control, and genome-wide association studies pipelines.
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http://dx.doi.org/10.1093/g3journal/jkae268 | DOI Listing |
Clin Oncol (R Coll Radiol)
December 2024
Radiation Oncology Network, Westmead Hospital, Westmead, NSW, Australia; Sydney Medical School, The University of Sydney, Camperdown, NSW 2006, Australia. Electronic address:
Aims: Unresectable cutaneous squamous cell cancer of the head and neck (HNcSCC) poses treatment challenges in elderly and comorbid patients. Radiation therapy (RT) is often employed for locoregional control. This study aimed to determine progression-free survival (PFS) and overall survival (OS) outcomes achieved with upfront RT in unresectable HNcSCC.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
January 2025
Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA 02138.
C-Terminal cyclic imides are posttranslational modifications that can arise from spontaneous intramolecular cleavage of asparagine or glutamine residues resulting in a form of irreversible protein damage. These protein damage events are recognized and removed by the E3 ligase substrate adapter cereblon (CRBN), indicating that these aging-related modifications may require cellular quality control mechanisms to prevent deleterious effects. However, the factors that determine protein or peptide susceptibility to C-terminal cyclic imide formation or their effect on protein stability have not been explored in detail.
View Article and Find Full Text PDFFood Addit Contam Part A Chem Anal Control Expo Risk Assess
January 2025
Department of Veterinary Medicine and Animal Science (DIVAS), University of Milan, Lodi, Italy.
Beehives can accumulate environmental contaminants as bees gather pollen, propolis, and water from their surroundings, contaminating hive products like honey. Moreover, in multifloral environments, bees can interact with plants treated with different pesticides, often causing higher pesticides concentrations in multi-floral honey than in mono-floral varieties. Glyphosate and glufosinate are both widely used herbicides.
View Article and Find Full Text PDFPLoS One
January 2025
Division of Emergency Medicine, University of Cape Town, Cape Town, South Africa.
To validate Palestine's previously derived emergency department quality standards (EDQS) using an e-Delphi survey. A two-round e-Delphi survey validated the EDQS, developed in an earlier study through a literature review and consensus-building among Palestinian emergency medicine and healthcare quality experts. The study purposively sampled 53 emergency department and healthcare quality experts with over 5 years of experience.
View Article and Find Full Text PDFPLoS One
January 2025
Foot and Mouth Disease Department, National Veterinary Research Institute, Vom, Plateau State, Nigeria.
The global public health risk posed by Salmonella Kentucky (S. Kentucky) is rising, particularly due to the dissemination of antimicrobial resistance genes in human and animal populations. This serovar, widespread in Africa, has emerged as a notable cause of non-typhoidal gastroenteritis in humans.
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