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.
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......
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...
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 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...
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...
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...
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...
The defining characteristic of Companion Diagnostics (CDx) is that their use is associated with selection of a therapy or other medical intervention....
Learning Objectives: 1. Discuss the conceptual limitations of the term, "population" as applied to human genomics. 2. Explain the main difference(s) between "race", "...
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...
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...
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...
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...
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...
Do you have targets that are difficult to genotype? Are you starting new projects and looking for a fast convenient genotyping solution?Whether screening CRISPR clones, exploring pharmaco...
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...
The current version of the human reference genome, GRCh38, contains a number of errors including 1.2 Mbp of falsely duplicated and 8.04 Mbp of collapsed regions. These errors impact the vari...
MicroRNAs (miRNAs) are small RNAs with an average size of 22 nucleotides that regulate gene expression through various mechanisms. During the last decade, researchers have identified over 26...
Experience the Revolution of DNA Polymerase Technology: Choosing the Best DNA Polymerase for Efficient PCR Workflows. PCR has revolutionized modern molecular biology, but its success would n...
Given the onset of extensive school closures, we are facing widespread scenarios of stunted learning, social isolation, and most troubling, an unprecedented surge in student suicides, all wh...
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...
Accurate prediction of anticancer drug efficacy on each patient’s cancer before the initiation of therapy has the potential to significantly reduce the treatment burden and enhance cli...
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...
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...
