A5089573549- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Biomedical Text Mining and Ontologies
- Genomics and Phylogenetic Studies
- RNA Research and Splicing
- Cellular transport and secretion
- Congenital heart defects research
- Cancer Genomics and Diagnostics
- Long-Term Effects of COVID-19
- Genetics, Bioinformatics, and Biomedical Research
- Neurogenetic and Muscular Disorders Research
- Mitochondrial Function and Pathology
- Retinal Development and Disorders
- Lysosomal Storage Disorders Research
- RNA and protein synthesis mechanisms
- Genetic Associations and Epidemiology
- Metabolism and Genetic Disorders
- Endoplasmic Reticulum Stress and Disease
- Ion channel regulation and function
- Wnt/β-catenin signaling in development and cancer
- Genetic Neurodegenerative Diseases
- RNA regulation and disease
- COVID-19 Clinical Research Studies
- Autophagy in Disease and Therapy
Texas Children's Hospital
2024
Stanford University
2020-2024
Emory University
2024
Neurological Research Institute
2024
Baylor College of Medicine
2024
University of Utah
2017-2023
Children's Hospital of Eastern Ontario
2023
University of Ottawa
2023
University of Alabama at Birmingham
2023
ARUP Laboratories (United States)
2023
Abstract In studies of families with rare disease, it is common to screen for de novo mutations, as well recessive or dominant variants that explain the phenotype. However, filtering strategies and software used prioritize high-confidence vary from study study. an effort establish recommendations disease research, we explore effective guidelines variant (SNP INDEL) report expected number candidates dominant, recessive, autosomal modes inheritance. We derived these using two large...
Genomic sequencing has become an increasingly powerful and relevant tool to be leveraged for the discovery of genetic aberrations underlying rare, Mendelian conditions. Although computational tools incorporated into diagnostic workflows this task are continually evolving improving, we nevertheless sought investigate commonalities across processing reveal consensus standard practice highlight exploratory analyses where technical theoretical method improvements would most impactful.
With increasing utilization of comprehensive genomic data to guide clinical care, anticipated become the standard care in many settings, practice diagnostic medicine is undergoing a notable shift. However, move from single-gene or panel-based genetic testing exome and genome sequencing has not been matched by development tools enable diagnosticians interpret increasingly complex uncertain findings. Here, we present gene.iobio, real-time, intuitive interactive web application for...
Introduction Hereditary haemorrhagic telangiectasia (HHT) is a genetically heterogeneous disorder caused by mutations in the genes ENG , ACVRL1 and SMAD4. Yet genetic cause remains unknown for some families even after exhaustive exome analysis. We hypothesised that non-coding regions of known HHT may harbour variants disrupt splicing these cases. Methods DNA from 35 individuals with clinical findings 2 healthy controls 13 underwent whole genome sequencing. Additionally, 87 unrelated cases...
ABSTRACT In studies of families with rare disease, it is common to screen for de novo mutations, as well recessive or dominant variants that explain the phenotype. However, filtering strategies and software used prioritize high-confidence vary from study study. an effort establish recommendations disease research, we derive effective guidelines variant report expected number candidates modes inheritance. The filters are applied attributes, including genotype quality, sequencing depth, allele...
Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome (OMIM 617140) is a recently identified neurodevelopmental disorder caused by heterozygous loss-of-function (LoF) variants in SON. Because the SON protein functions as an RNA-splicing regulator, it has been shown that some clinical features of ZTTK can be attributed to abnormal RNA splicing. Several neurologic have observed patients with syndrome, including seizure/epilepsy and other EEG abnormalities. However, relationship between LoF hemiplegic...
Abstract When ordering genetic testing or triaging candidate variants in exome and genome sequencing studies, it is critical to generate test a comprehensive list of genes that succinctly describe the complete objective phenotypic features disease. Significant efforts have been made curate gene:disease associations both academic research commercial laboratory settings. However, many these valuable resources exist as islands must be used independently, generating static, single-resource...
Computational analysis of genome or exome sequences may improve inherited disease diagnosis, but is costly and time-consuming.We describe the use iobio, a web-based tool suite for intuitive, real-time diagnostic analyses.We used iobio to identify disease-causing variant in patient with early infantile epileptic encephalopathy prior nondiagnostic genetic testing.Iobio tools can be by clinicians rapidly variants from genomic sequencing data.
Abstract A comprehensive list of candidate genes that succinctly describe the complete and objective phenotypic features disease is critical when both ordering genetic testing triaging variants in exome genome sequencing studies. Great efforts have been made to curate gene:disease associations academic research commercial gene settings. However, many these valuable resources exist as islands must be used independently, generating static, single-resource association lists. To more effectively...
Pedigree files are ubiquitously used within bioinformatics and genetics studies to convey critical information about relatedness, sex affected status of study samples. While the text based format ped is efficient for computational methods, it not immediately intuitive a bioinformatician or geneticist trying understand family structures, many which encode individuals across multiple generations. The visualization pedigrees into connected nodes with descriptive shapes shading provides far more...
The primary goal of precision genomics is the identification causative genetic variants in targeted or whole-genome sequencing data. ultimate clinical hope that these findings lead to an efficacious change treatment for patient. In current practice, are typically returned by expert analysts as static, text-based reports. Ideally, reports summarize quality data obtained, integrate known gene-phenotype associations, follow allele segregation and affected status within sequenced samples, weigh...
The Undiagnosed Disease Network, a National Institutes of Health-sponsored research program with 14 centers across the United States, addresses diagnostic challenges faced by individuals rare diseases. RNA-sequencing (RNA-seq) has become powerful tool in clinical genetics, offering insights into transcriptome and genome complexity. RNA-seq provides valuable information on gene expression, allele-specific alternative splicing, aiding unraveling intricacies genetic variants identified exome or...
With increasing utilization of comprehensive genomic data to guide clinical care, anticipated become the standard care in many settings, practice diagnostic medicine is undergoing a notable shift. However, move from single-gene or panel-based genetic testing exome and genome sequencing has not been matched by development tools enable diagnosticians interpret increasingly complex findings. A new paradigm emerged, where genome-based tests are often evaluated large multi-disciplinary...
OBJECTIVES/SPECIFIC AIMS: The objective of the study was 2-fold; to identify potentially deleterious alleles in a child with Treacher Collins syndrome, and; demonstrate value iobio analysis platform for intuitively and rapidly analyzing genomic data. METHODS/STUDY POPULATION: We used suite web-based applications analyze quality metrics sequencing data called variants proband his parents. then visually interrogated genes associated syndrome real-time, using intuitive gene.iobio application....
Abstract With increasing utilization of comprehensive genomic data to guide clinical care, anticipated become the standard care in many settings, practice diagnostic medicine is undergoing a notable shift. However, move from single-gene or panel-based genetic testing exome and genome sequencing has not been matched by development tools enable diagnosticians interpret increasingly complex uncertain findings. Here, we present gene.iobio, real-time, intuitive interactive web application for...