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.
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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...
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 (...
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...
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...
The MAF bZIP Transcription Factor G (MAFG) is a member of the small MAF family of proteins. Previously, we have shown that miRNA-29 suppresses melanoma development, at least in part, by repr...
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...
Genomic information has the potential to improve management or potentially prevent or enable early intervention of virtually every disease. However, despite massive technological leaps and ex...
Triple-negative breast cancer (TNBC) has poor prognosis with frequent relapses and deaths using current standard of care treatments. Metabolic reprograming is now recognized as a fundam...
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 FDA approval of the first Chimeric Antigen Receptor T cell (CAR-T) therapy offers cancer patients more promise than ever for curative effects. However, many technical challenges in T c...
In 2013, a separate diagnosis of PTSD was introduced into the DSM-V to mitigate the well-known issue of accurately differentiating between PSTD and other psychiatric disorders. In addition t...
The CRISPR revolution has begun and shows no signs of slowing down. CRISPR-Cas nuclease-based genome editing strategies hold great promise for the treatment of genetic disorders. However, a...
Chromatin Immunoprecipitation, coupled with sequencing, has shaped our understanding of how transcriptional machinery interacts with genomes to facilitate gene regulation. These protein-DNA...
The arrangement of chromatin inside the nucleus has long been recognized as a key element in genomic stability and an active participant in transcriptional control. With the development and d...
(Adapted from a DPYD verification document written by Hannah Stevens, Trainee Clinical Scientist) 5-Fluorouracil (5-FU) and capecitabine are fluoropyrimidine chemotherapies that are used to...
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...
