Area of research
Molecular Biology · Genetics
Research interest
Research interests include Biomedical Text Mining and Ontologies, Genomics and Phylogenetic Studies, Genomics and Rare Diseases, and Bioinformatics and Genomic Networks.
An artificial intelligence approach for investigating multifactorial pain-related features of endometriosis
Whole-genome sequencing analysis of suicide deaths integrating brain-regulatory eQTLs data to identify risk loci and genes
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and disease mechanisms
Developing an LSTM Model to Identify Surgical Site Infections using Electronic Healthcare Records.
PubMed 2023cited by 12position: middle
An explainable artificial intelligence approach for predicting cardiovascular outcomes using electronic health records
Pain points in parents’ interactions with newborn screening systems: a qualitative study
GA4GH: International policies and standards for data sharing across genomic research and healthcare
Methods and feasibility study for exome sequencing as a universal second-tier test in newborn screening
Redefining fundamental concepts of transcription initiation in bacteria
Unification of miRNA and isomiR research: the mirGFF3 format and the mirtop API
ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene
The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool
Settling the score: variant prioritization and Mendelian disease
Viral Pathogen Detection by Metagenomics and Pan-Viral Group Polymerase Chain Reaction in Children With Pneumonia Lacking Identifiable Etiology
Human Bocavirus Capsid Messenger RNA Detection in Children With Pneumonia
Unbiased Detection of Respiratory Viruses by Use of RNA Sequencing-Based Metagenomics: a Systematic Comparison to a Commercial PCR Panel
Taxonomer: an interactive metagenomics analysis portal for universal pathogen detection and host mRNA expression profiling
OmniSearch: a semantic search system based on the Ontology for MIcroRNA Target (OMIT) for microRNA-target gene interaction data
The Non-Coding RNA Ontology (NCRO): a comprehensive resource for the unification of non-coding RNA biology
The development of non-coding RNA ontology
miRNA Nomenclature: A View Incorporating Genetic Origins, Biosynthetic Pathways, and Sequence Variants
Improving the Sequence Ontology terminology for genomic variant annotation
A High-Throughput Next-Generation Sequencing Assay for the Mitochondrial Genome
A semantic approach for knowledge capture of MIcroRNA-Target gene interactions
Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families
Technical desiderata for the integration of genomic data with clinical decision support
OMIT: Dynamic, Semi-Automated Ontology Development for the microRNA Domain
A Proposed Clinical Decision Support Architecture Capable of Supporting Whole Genome Sequence Information
The Development of Next-Generation Sequencing Assays for the Mitochondrial Genome and 108 Nuclear Genes Associated with Mitochondrial Disorders