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.
Single cell RNA sequencing (scRNA-seq) emerged to characterize gene expression differences between individual cells, allowing a higher resolution look at mRNA abundance than bulk RNA- seq. H...
Genetic drivers of cancer can be dysregulated through epigenetic modifications of DNA. Although the critical role of DNA 5-methylcytosine (5mC) in the regulation of transcription is recognize...
Gene therapy has experienced an increasing number of successful human clinical trials, leading to 6 FDA approved products using delivery vectors based on adeno-associated viruses (AAV). Thes...
The realization of the promise of personalized molecular medicine requires efficient development and implementation of novel targeted therapeutics linked to molecular markers able to identify...
The complete assembly of each human chromosome is essential for understanding human biology and evolution. Using complementary long-read sequencing technologies, we complete the first linear...
Modern biomedical research is being driven by large scale genetic and proteomic research to identify new targets for the study of disease mechanisms. While these techniques have been incredi...
Regardless of method, single cell RNA-seq only captures a small fraction of the transcriptome of each cell. Often, this is due to inherent limitations of the methodology as reads ‘drop...
To provide insight on the utility and practicality of implementing a pharmacist-driven pharmacogenomics program in a community pharmacy or primary care setting and to provide a clinical updat...
Characterizing cellular hierarchy has profound implications in development and diseases. Single-cell technologies have great potential in discovering new cell types and lineage relationships,...
Genetic disease is the leading cause of death for infants in the intensive care units. Traditional testing is too slow to provide physicians a timely diagnosis to help guide the management of...
Long read Structural Variation calling remains a challenging but highly accurate way to identify complex genomic alterations. To address this challenge, we developed Sniffles2, a successor t...
Nucleotide variation in gene regulatory elements is a major cause of human disease. Despite continual progress in the cataloging of these elements, little is known about the code and grammati...
Genomic testing based on chromosome microarray (CMA) and Next Generation Sequencing (NGS) revolutionized clinical genetics. That said, microarray, targeted panel, exome and generic whole gen...
First discovered as a genome-editing tool just seven years ago, CRISPR systems have already changed the face of basic research, allowing researchers to alter the DNA of hundreds of organisms...
A fundamental challenge for cystic fibrosis (CF) gene therapy is ensuring sufficient transduction of airway epithelial cells to achieve therapeutic correction. Vehicles such as lysophosphati...
Genome Wide Association Studies (GWAS) and expression quantitative trait locus (eQTL) analyses have identified genetic associations with a wide range of human phenotypes. However, many of the...
Careful and deliberate packaging of the genome is essential to ensuring correct and timely transcriptional programs. Chromatin conformation capture (3C and Hi-C) is a powerful approach for c...
Understanding the order in which mutations accumulate during cancer progression could help us identify effective therapeutic targets. Yet, our insights are limited by the fact that we can on...
According to the American Cancer Society, in there were an estimated 110,070 new cases diagnosed and approximately 32,120 deaths from gynecologic cancers in the U.S. in 2018. Of the five mos...
The introduction of PacBio HiFi sequence reads, which are both long (up to 25 kb currently) and accurate (>99%) at the individual single-molecule sequence read level, has allowed for adva...
Aging is accompanied by widespread epigenetic reprogramming, including the loss of heterochromatin and altered chromatin-associated processes. These changes compromise transcriptional precis...
Tumors are often categorized into standard molecular subtypes. However, largescale studies have demonstrated that patient heterogeneity in the regulatory make-up of tumors remain. At the tran...
Recent technological advances as well as longitudinal monitoring not only have the potential to improve the treatment of disease (Precision Medicine) but also empower people to stay healthy (...
Laboratory implementation of clinical genomics in children requires customization of analytical tools tailored to profile the divergent mutational landscape in childhood tumors. The relative...
The speakers will discuss how to surmount obstacles related to translating sequencing data into actionable results, and propose curated variant content shared with the clinical community as...
Next-generation sequencing (NGS) oncology panels are becoming integral in hospital and academic settings to guide patient treatment and enrollment in clinical trials. But as NGS is increasin...
The Genome in a Bottle Consortium (GIAB) has characterized an Ashkenazi trio from the Personal Genome Project (NIST Reference Material 8392) with 12 short, long, and linked read sequencing an...
Single cell RNA sequencing (scRNA-seq) emerged to characterize gene expression differences between individual cells, allowing a higher resolution look at mRNA abundance than bulk RNA- seq. H...
