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.
Structural variants (SVs) are essential in human evolution and genetic disease but remain understudied. This is especially the case for non-Caucasian ethnicities. We report, for the first ti...
It was 10 years ago that Illumina first launched the Genome Analyzer II, the world’s first high-throughput sequencing platform. That system could produce one billion bps of sequen...
Variant interpretation presents a bottleneck for many labs, posing a challenge to the broader adoption of precision medicine. The ACMG/AMP variant classification framework has provided a foun...
Arrayed gene knockout (KO) libraries represent a valuable resource for performing functional genomics screening. Current generation arrayed KO libraries for the whole human genome rely on eit...
The human genome encodes 25,000 genes. But the biological complexity inherent in polygenic traits is a clear sign that the whole is greater than the sum of its parts. Genes, gene products, a...
Pathogen detection and surveillance have become a high priority in both healthcare and environmental settings for the safety of patients and the general public. The COVID-19 pandemic highlig...
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...
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...
5-fluorouracil (5-FU) and its oral analog capecitabine are fluoropyrimidine chemotherapy agents used in several solid tumors. Approximately 5% of patients inherit diminished or null activity...
Structural variants (SVs), defined as rearrangements of genomic sequences, are both a major source of genetic diversity in human populations and are also directly responsible for the pathogen...
Graphene-based Biology-gated Transistors (Cardean Transistors) directly read molecular signals of active biology using advanced electronics. This proprietary tech breakthrough can be used as...
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...
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...
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...
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...
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...
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...
Somatic mutations that arise during development are increasingly recognized as contributors to neurodevelopmental disease. One challenge has been to determine how mosaic mutations contribute...
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...
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...
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...
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...
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...
Pharmacogenomics has had rapid implementation over the past decade, with recent growth in application in oncology, mental health, solid organ transplantation, and more. There has been much f...