In 2001, Celera Genomics and the International Human Genome Sequencing Consortium published initial drafts of the human genome. However, the heterochromatin and many other complex regions were left unfinished or erroneous. The Telomere-to-Telomere (T2T) Consortium has finished the complete sequence of a human genome, including centromeric satellite arrays and the short arms of all five acrocentric chromosomes, unlocking these complex regions of the genome for the first time.

WebMeV was designed to address the hurdles present for wet lab scientists using Bioinformatics tools. RNASeq tools and pipelines have become robust and standardized. WebMeV leverages this fact to provide a simple, fully graphical, and interactive web-based solution to Bioinformatic analyses. WebMeV endeavors to be fully transparent and reproducible by having both code and environment open-sourced, portable, and fully reproducible independent of WebMeV with Github and Docker repositories.

For precision medicine to become routine, more must be done to understand human genetic variations and how they contribute to diseases and disorders. This requires high-confidence variant catalogues, comprehensive annotations, and approaches to genome-wide analytics that drive new understandings in human biology and medicine. GPU-based parallel processing of sequencing data is now addressing the myriad bottlenecks that occur across the computational workflow. With performance of up to 60x acceleration for state-of-the-art bioinformatics tools and complete end-to-end workflows in under 25 minutes, larger sequencing projects are becoming less expensive, easier to manage, and generating more useful insights than ever before. We will discuss an accelerated analysis solution that includes IT infrastructure requirements to detect and annotate genetic variants.

We describe the development and maturation of a computational system for using long-read RNA-seq data to first identify novel isoforms in the human genome, then characterize differences in isoform distribution across biological conditions of interest. We focus on architectural features and strategies for enhancing portability, reproducibility, scalability, and reliability. This resource-efficient system maintains substantial flexibility in the way this self-documenting pipeline is executed.

Micronoma is the only cancer diagnostic company using the microbiome to detect early-stage cancer. As liquid biopsy is fast becoming an important new direction method for cancer diagnostics, early detection remains a challenge that using the cancer microbiome may be able to solve. Micronoma's promising research, published in Nature in 2020, found unique microbial signatures in tissue and blood for most major types of cancer.

There has been a confusing proliferation of probe sources. Probes are increasingly important functional genomics tools but have associated pitfalls. Specific and potent small-molecule chemical probes generate biological insights for understudied proteins and can validate new drug targets. Since the NLP/NIH probes developed between 2005 to 2014 many sources have surfaced new probe structures. However, it has become difficult to know exactly what is available. The Probes & Drugs database (P&D) has collated 4,471 probes from 12 sources, experimentally supported or calculated. This work compares these sources and PubChem intersections. This provides a unique overview of the numbers and highlights unexpected results.

The implementation of Oxford Nanopore sequencing by high school students and teachers to determine the composition of the microbial communities present in waterways of Western New York in the NIH SEPA funded Metagenomics Education Partnership will be discussed. Topics covered will include project goals, the development of SOPs by graduate students, and the first implementation of teacher professional development training that took place in the summer of 2021. Included will be water collection methods, DNA extraction from filters for metagenomic sequencing, DNA extraction for whole genome sequencing and initial metagenomic results using Flongle flow cells to perform sequencing.

The University of Pittsburgh’s Hillman Academy and Internship Program for Biomedical Research, Informatics, and Computer Science (iBRIC) pathway programs have provided 8-10 week authentic and mentored research experiences in data science to hundreds of high school and undergraduate students from underrepresented groups for over a decade. In this talk, we will discuss the structure, student outcomes, and opportunities for collaboration and expansion.

The promise of genomics in preventive health has often made headlines – yet there have been few practical applications in healthcare delivery to date. In this talk, I will share some early use cases from Singapore and the U.K. that are starting to leverage genomic information to identify risk factors and subsequently recommend early medical intervention. This approach could potentially improve health outcomes and reduce healthcare costs.