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.
Learning Objectives: 1. Describe alternative (non-B) DNA structures, how prevalent are they and what are their biological implications? 2. Explain why non-B DNA structures might be relevant...
Achieving a diagnosis in rare disease patients can be challenging for even the most experienced clinician or scientist, creating a barrier to delivering truly personalised care. An exome seq...
Microbial communities include distinct lineages of closely related organisms which have proved challenging to separate in metagenomic assembly. Challenges include the existence of highly rel...
This session provides an introduction to the MiSeq i100 Series, the simplest, fastest benchtop sequencer. Giving a brief overview of the revolutionary technology that's been built into the n...
The introduction of improved, more cost efficient target capture technologies has accelerated the adoption of Whole Exome Sequencing (WES) in clinical diagnostics. The ability to provide mor...
While CRISPR-Cas9 has dominated the science headlines in recent years, there has been a broad social and moral consensus that it is too soon to move to clinical use of genome editing in human...
Performance. Automation. Convenience. Versatility. Those three elements exemplify the Miltenyi Biotec family of flow cytometers. Designed to support the field of flow cytometry, the MACSQuan...
Infectious gastroenteritis is a disease caused by bacterial, viral, and parasitic pathogens in which the small and/or large intestines become severely inflamed. Because infectious gastroenter...
NGS Bioinformatics software has come of age. Our workflows need software solutions that don’t only carry out the correct calculations to give the correct results reliably and unambiguo...
Somatic mutations that arise during development are increasingly recognized as contributors to neurodevelopmental disease. One challenge has been to determine how mosaic mutations contribute...
Background: Pathologists have long recognized that the interaction between immune and tumour cells is critical in the development and progression of breast cancer. Studies have demonstrated...
Learning Objectives: 1. Identify different kinds of genomic resources 2. Learn to apply the features available in genomic resources to cancer variant interpretation 3. Describe the importanc...
Esophageal adenocarcinoma [EAC] is the fastest growing in incidence cancer in the US over the last 25 years, while also having a 5 year survival of less than 20%. Barrett’s Esophagus [...
Within the clinical arena, the oncology community has led the way in the early adoption of next generation sequencing. NGS is in widespread use in clinical cancer research and is now beginni...
As the SARS-CoV-2 continues to spread and evolve and vaccination efforts are under way, countries around the world are confronting new public health challenges due to the emergence and rapid...
The Type 2 Diabetes Knowledge Portal is an open-access resource for human genetic information on type 2 diabetes (T2D). It is a central repository for data from large genomic studies that ide...
For infectious disease pathogen detection and research, real-time PCR enables reliable, sensitive, specific, and scalable results over slower culture-based methods...
In this presentation I will describe results from a family study designed to identify the genetic cause for familial clustering of several early onset cancers. Data from next generatio...
A plethora of methods and tools have been developed to identify genes differentially expressed between two compared conditions, such as "diseased versus healthy". For many scientist...
Advanced cancer patients, individuals that have a <50% chance of 5 year-survival and have exhausted standard of care options, are often seeking for innovative therapies. These drugs may b...
Over the past ten years, CRISPR technology has revolutionized genome engineering, as reflected by the recently awarded Nobel Prize. Nevertheless, the process of performing and characterizing...
Learning Objectives: 1. Demonstrate the utility of long-read RNA-sequencing in studying alternative isoforms 2. Define the long-Split-seq approach to profiling the transcriptomes of single-c...
Targeted sequencing has many applications in cancer biomarker research, carrier screening and inherited disorders, drug development, mitochondrial DNA variant detection, human ID and paterni...
In the field of oncology, the ability to select cells from a specific location or region within a tissue and analyze each discrete genome allows for the understanding of tumor heterogeneity....
The personalized treatment of each cancer patient with targeted therapies selected based on our understanding of the molecular biology of cancer has been the long-standing goal of......
The study of inherited genomic variation through genome wide association studies (GWAS) promised to provide key biologic insight into common diseases of public health significance such as obe...
CRISPR-Cas9 has been widely adapted for use in transcriptional modulation and epigenetic engineering with deactivated Cas9 (dCas9) systems to enable CRISPR interference (CRISPRi) and CRISPR...