Notice: Undefined index: view in /homepages/32/d582670453/htdocs/clickandbuilds/Joomla/MyCMS/components/com_content/router.php on line 73
NGS application in human genetics - Webinars & Tutorials

This website uses cookies in order to improve our services. If you proceed visiting this website you accept the usage of cookies. For more info please read our Data Privacy statement.

 

Human Genetics and Clinical Application - NGS Webinars/ Tutorials/ Videos 


 Human Genetics & Clinical NGS Application Webinars

The Human Genome Project, 3D Animation

This short four minutes introduction to the human genome project gives a very nice basic visualization of genome, DNA and genes. This is easy to understand without background in molecular biology, genetics and NGS.

Website

Cancer genomics

(93 min, 2015) The video comes in a talk show format with scientists talking about cancer, genomics, costs and different options to use NGS in cancer diagnostics and research. They also discuss how these factors interact and about the benefits and problems.

CentoMito®: Mitochondrial Disease Testing in the Clinical Practice

Mitochondrial diseases are genetic conditions that occur when mitochondria are failing to produce enough energy for the cell. Genetic mutations in the mitochondrial genome, or nuclear genes encoding proteins functional inside mitochondria, are causing developmental, neurological, muscular and cognitive disabilities with symptoms including poor growth, loss of muscle coordination, muscle weakness and pain, seizures, vision and/or hearing loss, gastrointestinal issues, learning disabilities and organ failure.

Source: Centogene

Website

How to classify genetic variants for clinical practice

The rapidly increasing number of genes associated with genetic disorders and novel sequence variants in clinical molecular laboratories, creates the essential need for a consistent variant classification system. Such a classification is fundamental to genetic diagnosis and subsequently, the clinical judgment. A uniform nomenclature, informed by a set of standardized criteria, ensures the unambiguous designation of a variant and enables effective sharing and downstream use of genomic information.

Source: Centogene

Website

Introduction to Whole Exome and Whole Genome Sequencing

(50 minutes, 2013) The tutorial starts with a brief introduction to DNA, Sanger sequencing and Illumina technology and workflow. The video gives an introduction to exome sequencing and discuss some examples for diseases only detected in exomes. It is a good introduction for beginners without detailed background in the topic. Additional, it introduce and discuss the application on the cancer project in the Texas children cancer centre.

Website

Next Generation Sequencing and Translational Research

Translational research describes the process of translating scientific discoveries into practical (clinical) applications. Genetic profiling to determine more effective, personalized treatments for a variety of diseases is the new reality. Today, top researchers and medical centers are taking next generation sequencing (NGS) data and translating this into improved patient care. In this webinar, you will hear from leading physicians and researchers, and discover how their institutions are taking NGS technology from bench to bedside.

Website

Taking Whole Genome Sequencing into Prime Time Clinical Practice

This GEN webinar will focus on scientific, clinical, and patient-oriented strategies to help WGS meet its high clinical expectations. Topics to be covered include whole genome sequencing strengths and weaknesses, transitioning from exome sequencing quality concerns and clinical utility to complementary issues with WGS, patients’ views on costs vs. benefits of WGS, potential risks associated with discrimination resulting from WGS data, regulatory and reimbursement issues, and themes revolving around privacy and patient ownership of WGS data. During the webinar Dr. David Smith will also point out specific clinical indications for which whole genome sequencing might be appropriate, Dr. Jason Park will talk about the need for improved standards covering whole genome sequencing and other techniques used in genomic medicine, and James O’Leary will provide the patient’s perspective on whole genome sequencing in the clinic. register required

Website

Translating Next-Gen Sequencing from the Lab to the Clinic: Challenges and Solutions

(Roche, 73 min, 2014) The video gives a very short introduction to NGS. Examples of clinical applications from the Pacific Northwest Research institute in Seattle are explained.
NGS is discussed on clinical sequencing for cancer diagnostics and the in house colorectal cancer panel for gene expression patter detection is introduced. Mate pair sequencing is explained on the Papilloma virus integration into the human genome. The whole genome sequencing application to diagnose a cryptic fusion oncogene or breast and lung cancer is explained on examples. A drug gene interaction database e.g. for cancer inhibitors is introduced.

Website

Whole Exome Sequencing (WES) in the clinical practice

Most of the human inherited disease-related mutations identified thus far are located in the exons. Indeed about 60% of all disease-causing mutations in Mendelian disorders are most likely to be found within these coding regions. Therefore medical answers are likely to be obtained with high probability through the sequencing of the complete exome.

During the webinar, our Medical Director Dr. Oliver Brandau will introduce the technique whole exome sequencing and present different clinical cases, with the goal to demonstrate “how”, “why” and “when” to use whole exome sequencing.

Source: Centogene

Website


Pin It