Joint UKGTN/ACGS Workshop: Towards Clinical Genome Sequencing: Quality Assurance of Tests 10th February 2015

Written by Jacqui Hoyle on 12 February 2015

UKGTN and the Association of Clinical Genetic Science (ACGS) hosted a workshop on the 10th February 2015 at the Congress Centre in London.  70 delegates were in attendance including scientific representatives from UKGTN member laboratories, Clinical Geneticists, ACGS Best Practice Guideline authors and Genomics England.  The agenda for the day included a discussion in the morning about the validation and verification of NGS testing.  The afternoon session focused on revising the Best Practice Guidelines for NGS targeted tests.  

The presentations are available to download below: 

Dr Jo WhittakerTypes of gene dossier applications UKGTN can accept for evaluation 
Dr Chris Mattocks Validation vs verification and how to calculate sensitivity based on gold standard vs NGS testing
Professor Sian EllardEffect of read depth on the sensitivity for detecting heterozygous SNVs and indels 
Dr Jo WhittakerConsensus Gene Sets
Dr Andrew WallaceUse of exomes for targeting/virtual panel analysis
Dr Chris WatsonCNV analysis 
Dr Steve AbbsFormat and what to include in reports