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.
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...
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...
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...
Laboratory implementation of clinical genomics in children requires customization of analytical tools tailored to profile the divergent mutational landscape in childhood tumors. The relative...
Estrogen metabolism is the ability to favorably excrete potentially toxic estrogens through urine and sweat. Impaired estrogen metabolism is associated with Endometriosis and Polycystic Ovar...
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...
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...
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 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...
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...
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...
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...
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...
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...
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...
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...
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 (...
(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...
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...
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...
In this presentation Dr. Kevin Halling describes the use of RNA-seq testing for identifying clinically significant gene fusions in tumors that can be used to help establish diagnosis and gui...
Recent improvements in sequencing chemistry and instrument performance combine to create a new PacBio data type of highly accurate (HiFi), long insert reads. Increased read length and improve...
Much has been said about the promise of Next Generation Sequencing (NGS) to revolutionise diagnosis of rare diseases, and there are many examples of success in this arena. However, the majori...
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...
Chromatin Immunoprecipitation, coupled with sequencing, has shaped our understanding of how transcriptional machinery interacts with genomes to facilitate gene regulation. These protein-DNA...