Reconstructing the complete phased sequences of every chromosome copy in human and non-human species are important for medical, population and comparative genetics. The unprecedented advancements in sequencing technologies have opened up new avenues to reconstruct these phased sequences that would enable a deeper understanding of molecular, cellular and developmental processes underlying complex diseases.
Dr. Crosslin will chronicle the National Human Genome Research Institute's (NHGRI) genetic medicine research efforts from discovery to implementation, including the Electronic Medical Records & Genomics (eMERGE) Network, the Clinical Sequencing Evidence-Generating Research (CSER) Consortium, and the Genomic Data Science Analysis, Visualization, and Informatics Lab-space (AnVIL).
Consider two inbred mouse strains that differ in a phenotype of interest, such as blood pressure.
The increasing omics data present a daunting informatics challenge. We try to address this challenge through DrBioRight, a natural language-oriented and artificial intelligence-driven analytic platform. This platform enables broad research community to perform analysis directly through human languages and it improves its performance through adaptive learning.
The United States is experiencing an opioid epidemic, and there were about 130 opioid overdose deaths each day, 10.3M misused opioid prescriptions and 2 million patients with opioid misuse disorder each year.
With he advent of low-cost sequencing, multi-omics is expected to become clinical routine and transform precision oncology within next decade. However, viable multi-omics models that can facilitate clinical decisions and tolerate sequencing bias are far lacking.
Persuasive languages present several unique challenges to the automatic processing of text. Common rhetorical devices used for persuasion are non-literal and implicit, so systems need to be able to disambiguate metaphoric usages and recognize the underlying intentions in text.
Mobile health applications (mHealth apps) are an integral part of the healthcare information ecology, with individuals using apps to track their health and manage health-related problems and healthcare organizations working to identify ways to incorporate this data into healthcare workflow. The degree to which mHealth apps adhere to well-established general good design principles or incorporate user-centered design approaches varies widely.
Healthcare providers nationwide have spent billions of dollars adopting electronic health records (EHRs) that incorporate clinical decision support (CDS) to improve patient safety, reduce costs, and comply with federal regulations. EHR adoption is nearly universal, 95% of EHRs in use are commercially-developed systems, and CDS is becoming interoperable across institutions and EHRs.
Dr. Foraker will share her experience implementing and evaluating health information technology tools in the context of cancer survivorship, with a focus on tool development and study design.