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

September 24 2018 @ 7:00 PM - 8:00 PM

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 the general workflow of a typical bioinformatic analysis, identifying variants from high-throughput sequencing data, starting from first principles.

Speaker: Brice Sarver, PhD
Moderator: Adam Chamberlin, PhD


United Kingdom


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.