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.
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...
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. Identify different kinds of genomic resources 2. Learn to apply the features available in genomic resources to cancer variant interpretation 3. Describe the importanc...
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...
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...
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...
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...
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...
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...
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...
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...
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...
Targeted sequencing has many applications in cancer biomarker research, carrier screening and inherited disorders, drug development, mitochondrial DNA variant detection, human ID and paterni...
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...
One of the central tenants of biology is that our genetics—our genotype—influences the physical characteristics we manifest—our phenotype. But with more than 25,000 human ge...
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...
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...
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...
Boston Children’s Hospital is developing the infrastructure needed for large-scale psychiatric research and treatment discovery. The Manton Center for Orphan Disease Research and...
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...
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...
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......
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...
