bioinformatics

Next Generation Sequencing Bioinformatics Virtual Course

This next generation sequencing bioinformatics course aims to equip participants with the essential informatics skills and knowledge required to begin analysing next generation sequencing data and carry out some of the most common types of analysis. The hands-on programme will cover several aspects of next generation sequencing data analysis, including lectures, discussions and practical computational …

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Webinar: Implementation of a Comprehensive NGS Oncology Panel including MSI and TMB Signatures

This webinar will provide a first-hand look at how a leading pathology lab implemented a next-generation sequencing panel to capture comprehensive molecular tumor profiles. As cancer genetics evolves and new clinical trials and data emerge, it has become increasingly critical to detect single nucleotide variants, insertions and deletions, as well as measuring copy number variations, …

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Webinar: Bioinformatics Basics: Variant Calling Using High-Throughput Sequencing Data

High-throughput (or, next-generation) sequencing data analysis requires a specialized biological and computational skillset. Scientists are required to work with large and complex files, program pipelines, use powerful computer hardware, and interpret results in a statistical context. While some analytical frameworks can be quite involved, several core steps are repeated among analyses. This webinar will describe …

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Case Study: Genetic Testing Lab Sees 25-Fold Scaleup with New Informatics System

This webinar offers a look at how an advanced genetics laboratory implemented and validated a commercial bioinformatics system to help scale its operations. William Kearns, founder of genetics testing lab AdvaGenix, will share his team’s experience as it sought to increase its testing throughput while maintaining high quality standards. After studying the time and cost …

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With any Whole Genome Sequencing (WGS) test ordered, a Record of Discussion (RoD) form will also need to be submitted. This document is to record the patient’s consent for genomic testing and their choice on taking part in research. Guidance on the patient choice conversation can be found here
 
This RoD form will be available for clinicians to download from this webpage. Once completed with the patient, it can be send to the lab with the corresponding test order form and sample.
Tests available to order will be listed in the National Genomic Test Directory. A test order form will soon be made available for clinicians on this webpage to download and complete. This form will include the address of the laboratory that the appropriate sample and completed form needs to be sent to.
 
Until the new Genomic Laboratory Service goes live, please continue to follow existing test order processes.
 
Later this year, the online test ordering tool for Whole Genome Sequencing will be integrated into the National Genomics Informatics System (NGIS) and clinicians will be able to search or filter to find a clinical indication, confirm eligibility criteria and start the test request process for their patient.