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.
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...
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...
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...
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...
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...
For infectious disease pathogen detection and research, real-time PCR enables reliable, sensitive, specific, and scalable results over slower culture-based methods...
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...
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...
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...
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...
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...
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 [...
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......
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....
Sex and gender differences are apparent in health and disease and aduring aging. Chronic obstructive pulmonary disease is a leading cause of death with pronounced sex and gender differences...
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...
Since late 2020, several prominent SARS-CoV-2 variants of concern have emerged harboring specific mutations which increase viral transmissibility (e.g., lineage B.1.1.7), and which appear to...
Biological systems are comprised of numerous cell types, intricately organized to form functional tissues and organs. Cell atlas initiatives with single-cell RNA sequencing have begun to cha...
Approximately 13% of the human genome at certain motifs have the potential to form non-canonical (non-B) DNA structures (e.g. G-quadruplexes, cruciforms, and Z-DNA), which regulate......
The CYP2D6 enzyme metabolizes approximately 25% of commonly used pharmaceuticals and is of intense pharmacogenetic interest. Polymorphisms in CYP2D6 can alter an individual’s response...
Rare diseases pose unique challenges in the medical field, often affecting a small but vulnerable population with limited treatment options. The Rare Disease Challenge (RaDiChal) is a ground...
Follow us on a journey of single cell data exploration. See how you can Process, Analyze, Compare, and Contextualize, your results to identify novel biological relationships and drive new hy...
Characterization of rare cells remains a major challenge for the evaluation and understanding of key biological systems, such as circulating tumor cells (CTCs) from liquid biopsy, stem cells...
The defining characteristic of Companion Diagnostics (CDx) is that their use is associated with selection of a therapy or other medical intervention....
Realizing the promise of Precision Medicine requires both a deep understanding of the landscape of genomic evidence and an understanding of the molecular drivers that influence all aspects o...
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...
