A5074217299- Genomics and Rare Diseases
- Biomedical Text Mining and Ontologies
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Microbial Metabolic Engineering and Bioproduction
- Family and Disability Support Research
- Autism Spectrum Disorder Research
- Genetics, Bioinformatics, and Biomedical Research
- Infant Development and Preterm Care
- Single-cell and spatial transcriptomics
- Machine Learning in Bioinformatics
Neurological Research Institute
2022-2024
Texas Children's Hospital
2022-2024
Baylor College of Medicine
2023-2024
Diagnosing genetic disorders requires extensive manual curation and interpretation of candidate variants, a labor-intensive task even for trained geneticists. Although artificial intelligence (AI) shows promise in aiding these diagnoses, existing AI tools have only achieved moderate success primary diagnosis.
Rare diseases are challenging to diagnose due limited patient data and genetic diversity. Despite advances in variant prioritization, many cases remain undiagnosed. While large language models (LLMs) have performed well medical exams, their effectiveness diagnosing rare has not been assessed. To identify causal genes, we benchmarked various LLMs for gene prioritization. Using multi-agent Human Phenotype Ontology (HPO) classification, categorized patients based on phenotypes solvability...
Single-cell genomics has revolutionized our understanding of cellular heterogeneity, but automating its analysis remains an open challenge. Cell-type annotation represents a critical bottleneck, particularly as datasets grow in size and complexity. While foundation models have shown promise addressing this challenge, existing approaches require extensive fine-tuning for effective cell-type annotation. Here, we present Lemur, single-cell model specifically designed Drosophila melanogaster ....
Abstract Background MECP2 Duplication Syndrome (MDS), resulting from the duplication of Xq28 region, including , is a rare disorder with nascent understanding in clinical features and severity. Studies using antisense oligonucleotides revealed broad phenotypic rescue transgenic mice. With human trials on horizon, there need to develop outcome measures for MDS. Methods We surveyed caregivers MDS individuals explore frequency severity features, identify most meaningful symptoms/domains that be...
Exome sequencing is a useful clinical tool in ending diagnostic odysseys, but health insurance and other systemic barriers prohibit individuals underserved communities from equitably accessing this genetic testing. Additionally, non-White and/or Hispanic/Latino backgrounds are underrepresented genomic research more likely to receive an inconclusive test result. In Texas, 30% of have public plans, 18% the Texas population uninsured, with Harris County (including Houston) having highest rate...
Background: Despite advancements in sequencing technology, the molecular diagnostics of rare genetic diseases remains challenging. The process identifying diagnostic variants from data involves extensive manual curation and interpretation candidate variants, leading to labor-intensive efforts. In a clinical laboratory operation, although it is recommended that periodical reanalysis should be performed for cases without diagnosis initial analysis, unresolved accumulate over time, making...