A5044869437- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- Genetic Associations and Epidemiology
- BRCA gene mutations in cancer
- DNA Repair Mechanisms
- RNA Research and Splicing
- Cytokine Signaling Pathways and Interactions
- Acute Myeloid Leukemia Research
- RNA modifications and cancer
- Biomedical Text Mining and Ontologies
- Artificial Intelligence in Healthcare and Education
- Radiomics and Machine Learning in Medical Imaging
- Meta-analysis and systematic reviews
- Molecular Biology Techniques and Applications
University of North Carolina at Chapel Hill
2018-2021
Dickinson College
2011
Abstract Background The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines established criteria different types evidence. This includes the strong evidence codes PS3 BS3 “well-established” functional assays demonstrating a has abnormal or normal gene/protein function, respectively. However, they did not provide detailed guidance on how should be evaluated, differences in application PS3/BS3 are...
Variants of uncertain significance represent a massive challenge to medical genetics. Multiplexed functional assays, in which the effects thousands genomic variants are assessed simultaneously, increasingly generating data that can be used as additional evidence for or against variant pathogenicity. Such assays have potential resolve significance, thereby increasing clinical utility testing. Existing standards from American College Medical Genetics and Genomics (ACMG)/Association Molecular...
Additional variant interpretation tools are required to effectively harness genomic sequencing for clinical applications. The American College of Medical Genetics and Genomics (ACMG) Association Molecular Pathology (AMP) published guidelines sequence interpretation, incorporating different types data that lend varying levels support towards a benign or pathogenic interpretation. Variants uncertain significance (VUS) those with either contradictory insufficient evidence, their uncertainty...
ABSTRACT Background The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines established criteria (PS3/BS3) functional assays that specified a “strong” level evidence. However, they did not provide detailed guidance on how evidence should be evaluated, differences in the application PS3/BS3 codes is contributor to discordance between laboratories. This recommendation seeks more structured approach...
Abstract HL-60 cells represent an established line of human acute myeloid leukemia that can be induced to differentiate along several distinct lineages. Phorbol esters activate a signaling network, which includes the protein kinase C (PKC) pathway, causing into macrophage-like cells. As genetic program is converted macrophage program, exit cell cycle, undergo morphological changes, become adherent, display other properties, and ultimately initiate apoptosis. This study provides detailed DNA...
ABSTRACT Background The 2015 American College of Medical Genetics and Genomics (ACMG) Association for Molecular Pathology (AMP) guidelines clinical sequence variant interpretation state that “well-established” functional studies can be used as evidence in classification. These articulated key attributes data, including assays should reflect the biological environment analytically sound; however, details how to evaluate these were left expert judgment. Clinical Genome Resource (ClinGen)...
Abstract Clinical genetic testing readily detects germline variants. Yet, the evidence available for variant classification as benign or pathogenic is often limited by rarity of individual variants, leading to many “variant uncertain significance” (VUS) classifications. VUS cannot guide clinical decisions, complicating counseling and management. Laboratory assays can potentially aid reclassification, but require benchmarking against variants with definitive interpretations have sufficient...