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.
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...
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...
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...
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...
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...
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...
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...
Banana (Musa spp.) is one of the major staple food crops grown in over 140 countries in the subtropics and tropics with annual global production of around 148 million metric, feeding about 50...
In recent years Nanotherapeutics has revolutionized the healthcare strategies and envisioned to have a tremendous impact to offer better health facilities. It involves design, fabrication, r...
Laboratory implementation of clinical genomics in children requires customization of analytical tools tailored to profile the divergent mutational landscape in childhood tumors. The relative...
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...
In 2014, the Undiagnosed Diseases Network (UDN), which is funded by the NIH, was established as a network of seven clinical sites, two sequencing cores, and a coordinating center. Later, a ce...
The combination of the wealth of genomic and phenotypic datasets to the measurement of the circulating proteome enables a snapshot of real-time biology and important results for determining...
Release of the first human genome assembly was a landmark achievement, and after nearly two decades of improvements, the current human reference genome (GRCh38) is the most accurate and compl...
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...
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...
Chromatin Immunoprecipitation, coupled with sequencing, has shaped our understanding of how transcriptional machinery interacts with genomes to facilitate gene regulation. These protein-DNA...
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...
(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...
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...
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...
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...
CRISPR/Cas9 technology has become very popular in the last 5 years and has profoundly changed our way to do genetically engineered animals. I will present the latest development in genome edi...
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...
Genome engineers can leverage an ever-expanding array of biological and computational tools to make targeted genetic changes. Maintaining and optimizing components ranging from reagent desig...
CRISPR (clustered regularly interspaced short palindromic repeats) RNA and CRISPR-associated genes (Cas) assemble into RNA-guided surveillance complex that targets foreign nucleic acids for d...
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...
