Presenter: Mark Musen, MD, PhD

Since the publication of the FAIR principles in 2016, the scientific community has been awash with efforts to make its data findable, accessible, interoperable, and reusable.  There is enormous peer pressure to assert that one’s online experimental data are already FAIR and that one’s data are more FAIR than those of the next person.  Alas, most online data are not FAIR, and attempts to measure FAIRness in a systematic way have gone nowhere.

Presenter: M.T. Murali, PhD

Nearly twenty methods have been developed to infer gene regulatory networks (GRNs) from single-cell RNA-seq data. An experimentalist seeking to analyze a new dataset faces a daunting task in selecting an appropriate inference method since there are no widely accepted ground-truth datasets for assessing algorithm accuracy and the criteria for evaluation and comparison of methods are varied.

Presenter: Ying Lu, PhD

Regulatory approval of a medical product considers both benefits and harms that can be measured by multiple endpoints. The importance of these endpoints may vary among patients. Current approaches integrate multiple outcomes without reflecting heterogeneity of patient preferences. In this paper, we proposed a new composite desirability of outcome ranking (DOOR) to define a winning probability.

Presenter: Michael Schatz, PhD

Long read sequencing is now well established for producing high quality reference genomes, including the first gap-free Telomere-to-Telomere assembly of a human genome. Thanks to substantial improvements in throughput, costs, and quality, long read sequencing is starting to be used for population-scale analysis of clinical genomes, especially to develop a detailed analysis of structural variants present. Here Dr.

Presenter: Curtis Huttenhower, PhD

Human microbiome research at population scale is now capable of achieving the molecular detail needed to integrate gut microbial community profiles with biochemical, environmental, and human regulatory and immunological responses.

Presenter: Ryan Mills, PhD

Mobile element insertions (MEIs), including Long interspersed element-1 (L1), Alu, and SVA (SINE-VNTR-Alu) retrotransposons, comprise approximately 46% of the human genome and have been shown to play an important role in human development and disease.

Presenter: Shilpa Garg, PhD

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.

Presenter: David R. Crosslin, PhD

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).

Presenter: Karl Broman, PhD

Consider two inbred mouse strains that differ in a phenotype of interest, such as blood pressure.

Presenter: Han Liang, PhD

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.