Science & Technology Committee
The Science and Technology Subcommittee will hold professional responsibility and provide professional direction on behalf of the Association for Clinical Genetic Science (ACGS) for science and technology matters
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ACGS 2019 Summer Scientific Meeting
If a presentation is not available it means the author opted out.
Please note that the ACGS is not responsible for and has not peer reviewed the contents of the presentations from this meeting.
Programme and Abstract Booklet
Day 1
Day 1
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09:40-10:00 Phenotypic Spectrum of neurodevelopmental CNVs. Dr Kimberley Kendall
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10:00-10:30 Clinical Implementation of WGS. Dr Madhuri Hegde
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11:20-11:40 ESMO germline focused analysis of tumour-only sequencing. Dr Clare Turnbull
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12:00-12:20 Update on Somatic Variants. Christopher Wragg
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12:20-13:00 Lightning Presentation Session
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14:00-15:00 ACGS AGM 2019
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15:00-15:20 GenQA - Variant Interpretation. Dr Sandi Deans
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16:10-16:25 WMRGL integrated reporting of targeted NGS and cytogenetic results in AML and MDS_Review of the first 1,000 cases. David Hill
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16:25-16:40 Identifying potential germline variants during somatic testing: A selection of challenging cases from the WMRGL Haemato-Oncology. Kimberley Reay
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16:40-16:55 100,000 Genomes Project: Validating WGS for clinical use in cancer programme. Alona Sosinsky
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16:55-17:10 The analysis of clinically relevant structural variants in 100k cancer genomes. Jamie Trotman
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17:10-17:25 Increased diagnostic yield from gene-agnostic trio analysis of 100,000 genomes project sequence data. Karen Stals
Day 2
Day 2
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09:30-09:50 Uncovering pathogenic variants in the non-coding genome. Dr Jamie Ellingford
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09:50-10:10 5' untranslated regions, upstream open reading frames and translational regulation. Dr Nicola Whiffin
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10:10-10:25 Pathogenic non-coding variants in inherited retinal disease from the 100,000 genome project. Dr Kate Oprych
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11:00-11:15 NIPT as part of the national screening programme in Wales - a 1 year review. Sarah Anderson
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11:15-11:30 Non-invasive diagnosis of retinoblastoma using cfDNA from aqueous humour. Amy Gerrish
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11:30-11:45 Non-invasive prenatal diagnosis for sickle cell disease by ddPCR and NGS_. Joe Shaw
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11:45-12:00 Exome sequencing of 875 parental/fetal trios with structural abnormlaities revealed by ultrasound in the UK prenatal assessment of genomes and exomes (PAGE) project. Dominic McMullan
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12:00-12:15 A pilot study for the application of NGS in CF newborn screening. Richard Kirk
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12:15-12:30 Genetic testing and variant classification in PCD reveals considerable genetic heterogeneity despite a high proportion of homozygous cases. Simon Thomas
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12:30-13:00 Lightning Presentation Session
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14:40-15:10 Genetic risk prediction. Professor Andrew Read
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15:40-15:55 A process for gaining consensus gene panels in the genomic medicine service using PanelApp. Ivone Leong
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15:55-16:10 CNV and SNV analysis of 844 intellectual disability genes in singleton referrals. Hannah Grayton
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16:10-16:25 DECIPHER - Enabling the sharing and interpretation of rare disease variants and associated clinical phenotypes. Julia Foreman
Posters
Posters
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Molecular testing of CADASIL in SWTRGL. Nocera-Jijon et al.
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Accurate Transmission Risk Assessment in Potential Mosaic Neurofibromatosis Type 2 (NF2). Williams et al.
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Streamlining the process of Sanger sequencing in a diagnostic laboratory by HotStart TouchDown PCR. Del Rey Jimenez et al.
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Clinical exome sequencing in patients with rare genetic disease found to have loss of heterozygosity by microarray. Darnell et al.
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Automated reporting of negative results for the 100,000 Genomes Project. Bond et al.
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NGS panel testing for albinism and nystagmus: missing heritability, modifiers and potential polygenic effects. Callaway et al.
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Hiding in plain sight: Inherited pathogenic variants that are expanding clinical phenotypes in autosomal dominant syndromes. Williams et al.
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A targeted NGS approach to detect activating and resistance mutations in the circulating tumour DNA of cancer patients. Cano-Flanagan et al.
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Improving array performance in GC rich regions. Heath et al.
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Development of a targeted Next-Generation Sequencing (NGS) assay for acquired mutations in myeloproliferative neoplasms (MPN). Maurer et al
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Approaches for trimming primer sequences from amplicon NGS reads. Jones et al.
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Validation of whole genome findings using qPCR –a service within the All Wales Medical Genomics Service (AWMGS). Heath et al.
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ACGS audit of invasive prenatal samples received by NHS Regional Genetics Laboratories for confirmation of NIPT findings over a 5 year period. Togneri et al.
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Value of UroVysion FISH in non-muscle invasive bladder cancer surveillance: first UK experience. Temple et al.
ACGS 2018 Summer Meeting
Please see below for the available posters and presentations.
If a presentation is not available it means the author opted out.
Please note that the ACGS is not responsible for and has not peer reviewed the contents of the presentations from this meeting.
Day 1
9.40 - GENQA Dr Katrina Rack (GENQA)
11.00 - Rosanna Coates-Brown (Manchester) Reducing the burden of Sanger sequencing confirmation
11.15 - Elizabeth Wood (Oxford) Characterisation of mitochondrial DNA using long read sequencing
11.30 - KirstyRussell_Somatic Variant Standardisation
11.45 - PAGE2 cases Sue Hamilton
12.00 - NIPD of single gene disorders (SGDs) by relative haplotype dosage (RHDO) Ben Bowns
12.15 - Fiona Togneri. Clinical applications of NIPT
12:30-13:00 Lightning Presentation Session
15.00 - Matthew Smith (Birmingham) Monitoring EGFR mutation status in NSCLC using circulating Tumour DNA
15.15 Lorraine Hartles Implementation and impact of extended panel analysis for improved cancer diagnosis (Birmingham)
Day 2
09.30 - PHE/NHSE data collection & cancer variant interpretation group McRonald_ Turnbull
10.10 - SIGNAL presentation Chris Anderson (Cardiff)
10.25 - GEL2MDT talk_HA2 Patrick Lombard (GOS)
11.30 - EMcDonagh PanelApp curation
11.50 - Joannella Moralles (EBI) Work by ENSEMBL and NCBI to align GENCODE/Ref Seq transcripts
12.10 - Navigating the field of gene patents Liddicoat
ACGS 2017 Summer Meeting
Please see below for the available posters and presentations.
If a presentation is not available it means the author opted out.
Please note that the ACGS is not responsible for and has not peer reviewed the contents of the presentations from this meeting.
Posters
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The Routine Reporting of Genomic Results Electronically: Matthew Parker
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KRAS G12D mosaicism in a patient with linear epidermal naevus and features of Neurofibromatosis Type 1 : Vijaya Ramachandran
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A mosaic KRAS G12D variant in a tissue from a plexiform neurofibroma in a patient with PTPN11 variant positive Noonan syndrome: Laura Cobbold
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DMD Deletions and duplications are pathogenic…..aren't they? - Jesse BG Hayesmoore
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Development of an NGS Assay for the Detection of Acquired GATA1 Mutations in Neonates and Young Children with Transient Leukaemia or Myeloid Leukaemia in Down Syndrome - Rachel Dodds
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VASA: ACMG Variant Scoring Assistant: For Sequence Variant Classification and Associated Evidence - Philip Davidson
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The Evolution of Genetic Testing for Hereditary Bowel Cancer at Oxford Medical Genetics Laboratories Jessica Gabriel
Day 1 WGS Implementation & Professional initiatives
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Creating the NHS Genomic Medicine Service - Sue Hill CSO
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100,000 genomes - Rare Disease Programme update Richard Scott
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100,000 genomes - Cancer Programme update - Clare Turnbull
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NHS Fetal Anomaly Screening Programme - Annett McHugh
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The Academy for Health Care Science (AHCS) - Brendan Cooper
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Health Education England - Genomics Education Programme - Anneke Seller
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Improving the interpretation of rare variants through inter-disciplinary working - Sian Ellard, Thalia Antoniadi, Emma Baple
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Validation and Reporting Working Groups (RD and Cancer) - Dom McMullan / Chris Wragg
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Evaluation of a modified Genomics England (GEL) Tiering System for NGS Variant Analysis - Simon Thomas
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ACGS Bioinformatics Group Update - Joo Wook Ahn
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‘Dynamic Panelisation’ as an approach to clinical exome analysis - David Gokhale
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A targeted exome testing strategy for inherited Intellectual Disability - Stephanie Barton
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The Genetics Clinic of the Future – a Dutch consortium approach to diagnostic Whole Genome Sequencing - Ies Nijman
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ACGS AGM
Day 2 Challenges in variant interpretation
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Whole genome and transcriptome analysis in anaplastic meningioma - Patrick Tarpey
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RNA-Sequencing to detect gene fusions in acute leukaemia: A proof-of-principle study - Melissa Connolly
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Nanopore long read sequencing for detection of point mutations and structural variants - Kezia Brown
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Rapid clinical NGS response to containing infectious disease outbreaks - Kim Brugger
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Non-invasive prenatal testing (NIPT) for fetal aneuploidy – Challenging cases and reporting conundrums! - Kirsten McKay Bounford
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Challenges in interpretation of relative haplotype dosage analysis (RHDO) data; our experience in implementing a non-invasive prenatal diagnosis (NIPD) clinical service - Beth Young
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Automation of bioinformatics analysis to improve efficiency of Non-Invasive Prenatal Diagnosis for monogenic disorders in North East Thames Regional Genetics - Helena Ahlfors
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Reproductive options for patients with mitochondrial DNA disease: Using mitochondrial donation to prevent disease transmission - Emma Watson
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Challenges and complexities in the interpretation of mitochondrial DNA (mtDNA) sequence variants - Steven Hardy
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Causes and consequences of de novo mutations in health and disease Professor - Joris Veltman
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Establishing variant pathogenicity in inherited cardiac conditions - Nicky Whiffin
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A comprehensive next generation sequencing service for inherited cardiac conditions; a review of the first three years of implementation - James Eden
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Exome sequencing identifies a new form of autosomal recessive Spondylocostal/spondylothoracic dysostoses - Melissa Sloman
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Using large-scale human genetic variation to inform variant prioritization in neuropsychiatric disorders - Kaitlin Samocha
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Comprehensive rare variant analysis via wholegenome sequencing to determine the molecular pathology of inherited retinal disease - Keren Carss
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Updating penetrance estimates for syndromes with variable phenotypic manifestation - Adele Corrigan
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The clinical utility of functional mRNA evaluation of rare genetic variants in diagnostic practice - Celia Duff-Farrier
ACGS 2016 Summer Scientific Meeting
Please see below for the available presentations.
If a presentation is not available it means the author opted out.
Please note that the ACGS is not responsible for and has not peer reviewed the contents of the presentations from this meeting.
Day 1 Rare & Reproductive Genomics
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Day 1 Programme: Rare & Reproductive Genomics
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ACGS 2016 AGM
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Incorporation of Genetic Data into PHE’S National Disease Registration Databases Fiona McRonald, PHE ACGS 2016
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DECIPHER, new tools and plans for transition to new genome assembly (build 38) Matthew Hurles, Sanger Institute ACGS 2016
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PHGF_Regulatory Landscape of data sharing Alison Hall, PHG Foundation ACGS 2016
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Validation of 100,000 Genomes results; from WGS to the Genomics England result Emma Baple Genomics England ACGS 2016
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UKGTN PanelApp Utility Consensus gene panels Fiona MacDonald, UKGTN ACGS 2016
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Phenotype-aware approaches to variant prioritisation Damian Smedley, Genomics England ACGS 2016
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Validation of 100,000 Genomes results; from Genomics England result to the clinical diagnostic report Sian Ellard, Exeter ACGS 2016
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Key note speaker Why there is more gene evolution than protein function Laurence Hurst, University of Bath ACGS 2016
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Setting Standards and Raising Quality for Clinical Bioinformatics Joo Wook Ahn, Guy’s & St Thomas’ ACGS 2016
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What lies beneath challenges in reporting SNP array results Jonathan Waters, GOS ACGS 2016
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Results of NIPT confirmation testing, following invasive prenatal sampling, highlight a need for consistent NIPT provision in the NHS Fiona Togneri, Birmingham ACGS 2016
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Copy number variants of uncertain significance in prenatal diagnosis, are the goal posts moving Lisa Burvill-Holmes, Bristol ACGS 2016
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Putative low penetrance or susceptibility variants, sodium channel genes in painful neuropathy as an example Carl Fratter, Oxford ACGS 2016
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Challenges and solutions to variant detection and interpretation in clinical exome sequencing Tom Cullup, GOS ACGS 2016
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Variant Interpretation for a NGS Disorders of Sex Development panel Nick Drinkall AVGS 2016
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Genomic Evaluation Meetings - effective reporting of challenging variants Olivera Spasic-Boskovic, Cambridge ACGS 2016
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Cryptic splice sites and micro-exons A case study MYBPC3 c.1224-52GA in association with hypertrophic cardiomyopathy Helen Sage, Oxford ACGS 2016
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To Cascade or not to Cascade Novel approaches to VUS classification in Familial Hypercholesterolemia Rebecca Whittington, Bristol ACGS
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Rising to the challenges of variant interpretation for the diagnosis of rare disease by exome sequencing Sian Ellard, Exeter ACGS 2016
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Re-classification of variants Implications from the cardiac perspective Karen McGuire, Ocford ACGS 2016
Day 2 Applying Genomics to Cancer
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Day 2 Programme: Applying Genomics to Cancer
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Validation in 100,000 genomes cancer programme Shirley Henderson, Oxford ACGS 2016
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Cancer sample quality Louise Jones, Barts ASCG 2016
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100,000 genomes cancer programme a GMC perspective E Shaw, Wessex ACGS 2016
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CRUK questionnaire of solid tumour services Sumi Subramaniam, Cancer Research UK ACGS 2016
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Diagnostic ctDNA Analysis of EGFR in Non-Small Cell Lung Cancer Angharad Williams, Cardiff ACGS 2016
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NGS to detect CNVs and gene fusions in CR-UK SMP Michelle Wood, Cardiff ACGS 2016
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CR-UK Stratified Medicine Programme Challenge of interpretation and reporting in solid tumours Pauline Rehal, Birmingham ACGS 2016
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Separating the Wheat from the Chaff; The Challenges of Interpreting Multiple Variants in Familial Cancer Patients.Tina Bedenham, Oxford ACGS 2016
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A complex NF2 mutation detected by custom Next Generation Sequencing (NGS) analysis Michael Bulman, Manchester ACGS 2016
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Characterising retrotransposon insertion mutations in Neurofibromatosis type 1 (NF1) Naomi Bowers, Manchester ACGS 2016
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Characterisation of co-operating genetic lesions to aid the clinical management of AML patients Vera Martin Dias, Birmingham ACGS 2016
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How close are we to standardised extended RAS gene mutation testing The UK NEQAS evaluation Susan Richman, Leeds ACGS 2016
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Introducing an External Quality Assessment for testing ctDNA in plasma Sandi Deans, UK NEQAS Edinburgh ACGS 2016
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Next Generation Sequencing in MDS and AML Kate Pearce, Newcastle ACGS 2016
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The Application of Next Generation Sequencing to the Analysis of Minimal Residual Disease in Childhood Acute Lymphoblastic Leukaemia Stephanie Wakeman, Bristol ACGS 2016
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Discovery of low level TP53 variants in CLL diagnostic samples using a custom designed NGS panel and the impact on clinical outcome Ria Hipkiss Oxford ACGS 2016
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Clinical Utility of NGS myeloid panel Adele Timbs, Oxford ACGS 2016
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Validation of a capture-based NGS panel for mutation profiling (including FLT3-itd and KMT2A gene fusions) in AML patients Paula Page, Birmingham ACGS 2016
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Implementation of NGS into Diagnostic Practice for Myeloid Malignancies HMDS Jan Taylor, Leeds ACGS 2016
Virtual Presentations
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Report of Clinically Significant CNVs in three Iranian patients with Autism and Additional Clinical Features
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Introduction of an NGS gene panel into the Haemato Oncology MPN service Birmingham ACGS 2016
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Confirmation of Spinal Muscular Atrophy (SMA) carrier status by non-invasive prenatal diagnosis (NIPD) not detected by MLPA ACGS 2016 Young et al
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Complement C5 and C6 deficiencies frequent in SA MD patients
Somatic Variant Interpretation Workshop 2018
Conference Rooms A&B | Birmingham Research Park Ltd | Vincent Drive | Edgbaston | Birmingham | B15 2SQ
Aim: To develop guidelines for a consensus approach to interpretation of somatic variants identified through genomic tests in patients with solid tumours and haematological malignancy.
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9.30-10.00 |
Registration. Tea and coffee on arrival |
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10:00-10:10 |
Welcome and Introduction |
Chris Wragg |
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10:10-10:45 |
Feedback from: |
Jenni Farley Ashley Cartwright |
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10:45-11:05 |
Kim Reay Kirsty Russell |
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11:05-11.20 |
Sandi Deans |
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11:20-12:20 |
Lightening presentations (5mins each + time for questions) Processes to ensure standardisation of variant interpretation across scorers Somatic variant interpretation tool ACGS bioinformatics BPG Current HMDS reporting processes Germline variant interpretation - how can it be applied to somatic variants/actionability Case presentation Case presentation Variant interpretation methods and interesting cases Use of commercial variant interpretation software |
Matthew Smith (Moth Path, Birmingham) Kirsty Russell (Bristol) Kirsty Russell Jan Taylor (Leeds HMDS) Dawn O'Sullivan (Aberdeen)
Paula Page (Birmingham) Mamoona Munir (Birmingham) Nicola Roberts (Manchester) Dorte Wren (Royal Marsden) |
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12:20-12:50 |
Joanne Mason |
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LUNCH |
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13:50-15:45 |
Focussed discussion:
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Chris Wragg |
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15.45-16:00 |
Next steps and AOB |
Chris Wragg |
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End of meeting |
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ACGS Scientific Sub-committee Build 38 Meeting
Presentations from the Build 38 meeting held in Manchester on Friday 17th January 2020 are now available below.
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