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.
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...
Recent technological advances as well as longitudinal monitoring not only have the potential to improve the treatment of disease (Precision Medicine) but also empower people to stay healthy (...
Careful and deliberate packaging of the genome is essential to ensuring correct and timely transcriptional programs. Chromatin conformation capture (3C and Hi-C) is a powerful approach for c...
Recent FDA approval of the first Chimeric Antigen Receptor T cell (CAR-T) therapy offers cancer patients more promise than ever for curative effects. However, many technical challenges in T c...
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...
In 2013, a separate diagnosis of PTSD was introduced into the DSM-V to mitigate the well-known issue of accurately differentiating between PSTD and other psychiatric disorders. In addition t...
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...
(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...
Triple-negative breast cancer (TNBC) has poor prognosis with frequent relapses and deaths using current standard of care treatments. Metabolic reprograming is now recognized as a fundam...
The arrangement of chromatin inside the nucleus has long been recognized as a key element in genomic stability and an active participant in transcriptional control. With the development and d...
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...
An ideal microbiome profiling method would produce strain level taxonomic classification of organisms and their relative quantities. We demonstrate proof of principle experiments that sequenc...
As genomics plays an ever expanding role in healthcare and research, educational programs focused on applied genomics have not kept pace with the demand for trained students. In this talk, w...
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...
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...
Dr. Sigrid Reinsch will discuss NASA’s GeneLab Project whose goal is to develop a unique publicly accessible repository and collaborative workspace that hosts multi-omics datasets gener...
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...
Chromatin Immunoprecipitation, coupled with sequencing, has shaped our understanding of how transcriptional machinery interacts with genomes to facilitate gene regulation. These protein-DNA...
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...
Since the introduction of single cell sequencing techniques to the genomics community, interest in its use has grown exponentially and the number of single cell publications has exploded. Th...
Short-read sequencing has found wide-spread use in metagenomics but the short read lengths and bias with regard to sequence composition have translated to limitations of the study of complex...
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...
Human intestinal epithelial cells (hIECs) are arranged as a monolayer of cells and provide the first line of defense against invading pathogens. Upon viral infection hIECs upregulate type I...
In this presentation I will describe our latest work to obtain comprehensive genomes leveraging long and linked reads. The vast majority of NGS whole-genome data covers hundreds of thousands...
Over the last decade, the policy and regulatory trajectory of genomic and reproductive technologies has been a checkered one. Approaches around the world range from constitutional and crimina...
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...
