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Accurate classification of genetic alterations is important to ensure the provision of high-quality clinical data. For interpretation of germline alterations, there are standardized guidelin...
Up until now, Big Data in healthcare has failed to drive any real progress in curing disease. However, we have just now reached a cost and throughput threshold in sequencing and bioinformati...
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...
A hypoxic tumour microenvironment is a feature of solid tumours. Many tumour types contain high fractions of hypoxic tissue. The relationship between high levels of tumour hypoxia and a poor...
The speakers will discuss how to surmount obstacles related to translating sequencing data into actionable results, and propose curated variant content shared with the clinical community as...
Rapid screening and speed of scale-up in protein therapeutics are critical factors in today’s biotech and pharma workflows. The ability to swiftly develop novel therapies often depends...
Genomics has had rapid implementation over the past decade, with recent growth in application in oncology, mental health, maternal fetal medicine, solid organ transplantation, and more. Much...
The COVID-19 pandemic has taken a dramatic toll worldwide. Its impact possibly has been the most palpable amongst uniquely vulnerable groups of patients, such as patients with a cancer diagn...
Objective : Evaluation of EDTA-gel blood collection tubes from remote locations for NIPS (Non-invasive prenatal testing). Design: Paired comparisons Population: 61 pregnant women from Britis...
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 [...
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...
MicroRNAs (miRNAs) are small RNAs with an average size of 22 nucleotides that regulate gene expression through various mechanisms. During the last decade, researchers have identified over 26...
Regardless of method, single cell RNA-seq only captures a small fraction of the transcriptome of each cell. Often, this is due to inherent limitations of the methodology as reads ‘drop...
Targeted sequencing has many applications in cancer biomarker research, carrier screening and inherited disorders, drug development, mitochondrial DNA variant detection, human ID and paterni...
Loop-mediated isothermal amplification (LAMP) uses a stand-displacing DNA polymerase and four to six primers to rapidly amplify DNA at a single temperature. By eliminating temperature cyclin...
Revolutionary sequencing technologies are enabling whole transcriptome profiling of tens to hundreds of thousands of single cells in parallel, in a single experiment. This has led to an expl...
Date: April 19, 2022 Time: 10:00am (PDT), 1:00pm (EDT), 7:00pm (CEST) Once upon a time, there were three public health labs. These labs were busy serving their states when, out of nowhere, a...
Learning Objectives: 1. Discuss the potential for newborn screening by whole genome sequencing. 2. Review the current evidence for the sensitivity and specificity of newborn screening by who...
While early genetic diagnosis can guide critical care management, the turnaround time for whole genome based diagnostic testing is months. Recent programs in neonatal populations have reduce...
Target enrichment workflows for Next Generation Sequencing are well-established methods that enable labs to achieve relatively low sequencing costs by specifically sequencing regions of inte...
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...
Recurrently emerging SARS-CoV-2 variants of concern (VOC) present increasingly sophisticated immune escape strategies that fuel global infection rates, as exemplified by the raging B.1.1.529...
Sex differences play an important role in development and progression of many diseases, and understanding how a disease differs between the sexes is essential for the advancement of preventi...
Understanding the order in which mutations accumulate during cancer progression could help us identify effective therapeutic targets. Yet, our insights are limited by the fact that we can on...
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...
Infectious disease monitoring on Oxford Nanopore Technologies (ONT) platforms offers rapid turnaround times and low cost. Tracking low frequency intra-host variants provides important insigh...
Accurate classification of genetic alterations is important to ensure the provision of high-quality clinical data. For interpretation of germline alterations, there are standardized guidelin...
