A5064435701- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
- Childhood Cancer Survivors' Quality of Life
- RNA modifications and cancer
- Genomics and Phylogenetic Studies
- RNA and protein synthesis mechanisms
- RNA Research and Splicing
- Genetic factors in colorectal cancer
- Neuroblastoma Research and Treatments
- Congenital Diaphragmatic Hernia Studies
- Testicular diseases and treatments
- Immunodeficiency and Autoimmune Disorders
- Evolution and Genetic Dynamics
- Viral Infections and Immunology Research
- Cardiac Valve Diseases and Treatments
- Ethics in Clinical Research
Nationwide Children's Hospital
2019-2024
Pediatric cancers typically have a distinct genomic landscape when compared to adult and frequently carry somatic gene fusion events that alter expression drive tumorigenesis. Sensitive specific detection of fusions through the analysis next-generation-based RNA sequencing (RNA-Seq) data is computationally challenging may be confounded by low tumor cellularity or underlying complexity. Furthermore, numerous computational tools are available identify from supporting RNA-Seq reads, yet each...
Abstract Background The role of synonymous single-nucleotide variants in human health and disease is poorly understood, yet evidence suggests that this class “silent” genetic variation plays multiple regulatory roles both transcription translation. One mechanism by which codons direct modulate the translational process through alteration elaborate structure formed single-stranded mRNA molecules. While tools to computationally predict effect non-synonymous on protein are plentiful, analogous...
Clinical exome and genome sequencing (ES/GS) have become indispensable diagnostic tools for rare genetic diseases (RGD). However, the interpretation of ES/GS presents a substantial operational challenge in clinical settings. Test requires review hundreds variants, task that has increasingly challenging given rising use ES/GS. In response, we present Assessment Variants by Likelihood Ratios (CAVaLRi), which employ modified likelihood ratio (LR) framework to assign probabilities candidate...
ABSTRACT Background In most organisms the structure of an mRNA molecule is crucial in determining speed translation, half-life, splicing propensities and final protein configuration. Synonymous variants which distort this wildtype may be pathogenic as a consequence. However, current clinical guidelines classify synonymous or “silent” single nucleotide (sSNVs) largely benign unless role RNA can demonstrated. Results We developed novel software to conduct global transcriptome study folding...
A bstract Background Pediatric cancers typically have a distinct genomic landscape when compared to adult and frequently carry somatic gene fusion events that alter expression drive tumorigenesis. Sensitive specific detection of fusions through the analysis next-generation-based RNA sequencing (RNA-Seq) data is computationally challenging may be confounded by low tumor cellularity or underlying complexity. Furthermore, numerous computational tools are available identify from supporting...