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.
Sex and gender differences are apparent in health and disease and aduring aging. Chronic obstructive pulmonary disease is a leading cause of death with pronounced sex and gender differences...
Since late 2020, several prominent SARS-CoV-2 variants of concern have emerged harboring specific mutations which increase viral transmissibility (e.g., lineage B.1.1.7), and which appear to...
Have you ever struggled to accurately pipette glycerol, ethanol, or other challenging liquids? METTLER TOLEDO Rainin developed Good Pipetting Practice™ (GPP™) as a practical, sci...
Biological systems are comprised of numerous cell types, intricately organized to form functional tissues and organs. Cell atlas initiatives with single-cell RNA sequencing have begun to cha...
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...
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...
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......
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...
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...
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...
The defining characteristic of Companion Diagnostics (CDx) is that their use is associated with selection of a therapy or other medical intervention....
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...
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 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...
Long-read sequencing was declared the method of the year for 2022 and, indeed, has fully arrived on the computational biology scene. Specifically, Oxford Nanopore Sequencing technology has e...
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...
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...
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...
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...
Interpreting genomic test results for cancer care remains a significant challenge, with variability in turnaround times, reporting standards, and clinical utility impacting patient outcomes....
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...
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...
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...
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,...
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...
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...
The advent of CRISPR-Cas (Clustered regularly interspaced short palindromic repeats-CRISPR associated) makes it feasible to target/edit the genome with precision. Most of the CRSIPR-Cas syst...
Sex and gender differences are apparent in health and disease and aduring aging. Chronic obstructive pulmonary disease is a leading cause of death with pronounced sex and gender differences...
