Publications by authors named "T O McDonald"
Somatic mutations in individual cells lead to genomic mosaicism, contributing to the intricate regulatory landscape of genetic disorders and cancers. To evaluate and refine the detection of somatic mosaicism across different technologies with personalized donor-specific assembly (DSA), we obtained tissue from the dorsolateral prefrontal cortex (DLPFC) of a post-mortem neurotypical 31-year-old individual. We sequenced bulk DLPFC tissue using Oxford Nanopore Technologies (~60X), NovaSeq (~30X), and linked-read sequencing (~28X).
View Article and Find Full Text PDFBackground: Survival of pediatric and young adults with malignant glioma remains poor despite progress in treatment. This is especially true for diffuse hemispheric glioma (DHG), H3 G34-mutant, which is often present in adolescent and young adult patients. This scoping review consolidates existing knowledge of DHG H3 G34-mutant and identifies future targets and therapeutic options.
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- This study explores the differences between self-reported outcomes by children and caregiver proxy-reports in pediatric fracture care, specifically for upper extremity fractures.
- The research involved 100 child-caregiver pairs who completed questionnaires across different PROMIS domains, revealing significant discrepancies in perceived pain and psychological stress.
- The findings underscore the importance of considering both self-reported and caregiver assessments in clinical settings, as only the disagreement in the Pain-Interference domain was deemed clinically significant.
The establishment of CRISPR/Cas9 gene editing in Anolis sagrei has positioned this species as a powerful model for studies of reptilian gene function. To enhance this model, we developed an immortalized lizard fibroblast cell line (ASEC-1) for the exploration of reptilian gene function in cellular processes. We demonstrate the use of this cell line by scrutinizing the role of primary cilia in lizard Hedgehog (Hh) signaling.
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- The study highlights how underrepresentation in clinical genomics research diminishes the relevance of findings and benefits, particularly emphasizing the importance of diverse participant inclusion.
- Researchers implemented patient-centered, data-driven strategies, such as using relatable and flexible recruitment methods, to ensure a diverse sample of parents and children in a pediatric genome sequencing study.
- As a result, a high percentage of eligible participants agreed to enroll (93.5% acceptance) and the majority of those who enrolled completed the study, demonstrating the effectiveness of engaging with underrepresented communities.