Follow a comprehensive curation of novel and significant discoveries in the fields of genetics and genomics by watching these webinars. Highlighted areas of interest in the fields of genetics and genomics include epigenetics, molecular genetics, hereditary disease, clinical genetics, population genetics, etc.
Esophageal adenocarcinoma [EAC] is the fastest growing in incidence cancer in the US over the last 25 years, while also having a 5 year survival of less than 20%. Barrett’s Esophagus [...
For infectious disease pathogen detection and research, real-time PCR enables reliable, sensitive, specific, and scalable results over slower culture-based methods...
The introduction of improved, more cost efficient target capture technologies has accelerated the adoption of Whole Exome Sequencing (WES) in clinical diagnostics. The ability to provide mor...
Realizing the promise of Precision Medicine requires both a deep understanding of the landscape of genomic evidence and an understanding of the molecular drivers that influence all aspects o...
Follow us on a journey of single cell data exploration. See how you can Process, Analyze, Compare, and Contextualize, your results to identify novel biological relationships and drive new hy...
As part of Healthy Davis Together, we have implemented rapid, inexpensive, high throughput testing for SARS-Cov-2 using technology repurposed from the agricultural biotechnology sector. This...
Short tandem repeats (STRs) are gold-standard genetic loci used for source attribution of evidentiary material in legal matters. Their power lies in their high heterozygosity and large allel...
Precise diagnosis of neurodevelopmental disorders (NDDs), which often have genetic causes, is a challenging and important problem. Here we describe the results of a recent pilot study using...
The CYP2D6 enzyme metabolizes approximately 25% of commonly used pharmaceuticals and is of intense pharmacogenetic interest. Polymorphisms in CYP2D6 can alter an individual’s response...
Approximately 13% of the human genome at certain motifs have the potential to form non-canonical (non-B) DNA structures (e.g. G-quadruplexes, cruciforms, and Z-DNA), which regulate......
Historically, nasopharyngeal sampling has been considered the gold standard for the detection of most upper respiratory tract infections, however major medical and laboratory supply chain is...
The All of Us (AoU) initiative aims to enhance personalized medical care by sequencing the genomes of over one million Americans of diverse ethnic backgrounds. To improve sequencing accuracy...
The Genome in a Bottle Consortium has published benchmarks for variant calling, but some challenging medically-relevant genes have been partially or fully excluded due to mapping challenges,...
The recent outbreak of the Coronavirus Disease 2019 (COVID-19) has spread all over the world and raised global concerns. Rapid and early detection of the novel coronavirus SARS-CoV-2, the ca...
Characterization of rare cells remains a major challenge for the evaluation and understanding of key biological systems, such as circulating tumor cells (CTCs) from liquid biopsy, stem cells...
Recurrently emerging SARS-CoV-2 variants of concern (VOC) present increasingly sophisticated immune escape strategies that fuel global infection rates, as exemplified by the raging B.1.1.529...
Learning Objectives: 1. Discuss the conceptual limitations of the term, "population" as applied to human genomics. 2. Explain the main difference(s) between "race", "...
Rare diseases pose unique challenges in the medical field, often affecting a small but vulnerable population with limited treatment options. The Rare Disease Challenge (RaDiChal) is a ground...
The last 20 years have seen an explosion of genetic information and data. New technological advances have made it faster and less expensive to understand the human genomes but most of those...
The defining characteristic of Companion Diagnostics (CDx) is that their use is associated with selection of a therapy or other medical intervention....
Infectious disease monitoring on Oxford Nanopore Technologies (ONT) platforms offers rapid turnaround times and low cost. Tracking low frequency intra-host variants provides important insigh...
Many oncology patients do not receive the most effective targeted treatments because of challenges associated with implementation of a personalized medicine approach. Despite a lengthy histo...
My laboratory uses tools from pharmacology, genomics, and cell signaling to study two key aspects of cancer biology. First, we seek to understand how oncogenic signals, altered metabolic sta...
The recent explosion in the sample sizes and diversity of omics assays has created exciting new opportunities for biomedical scientists. However, connecting these omics data types in an inte...
Genomics has had rapid implementation over the past decade, with recent growth in application in oncology, mental health, maternal fetal medicine, solid organ transplantation, and more. Much...
Spinal muscular atrophy (SMA) is a devastating neuromuscular disease caused by mutations in the SMN1 gene that reduce survival motor neuron (SMN) protein expression. Despite progress in the...
Rapid, accurate, and wide-spread COVID-19 testing is essential for contact tracing, timely triaging of patients, and viral monitoring. The current gold standard for COVID-19 testing is RT-PC...
Esophageal adenocarcinoma [EAC] is the fastest growing in incidence cancer in the US over the last 25 years, while also having a 5 year survival of less than 20%. Barrett’s Esophagus [...
