ACGS 2018 Summer Meeting

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Please note that the ACGS is not responsible for and has not peer reviewed the contents of the presentations from this meeting.

Final programme available here

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)

16.00 - Anthony Dallosso

16.15 - Elizabeth Watson FH

16.30 - Lisa Irving TruSight RNA Fusion Panel

16.45 - Jessica Woodley Sharing variant information between laboratories WMRGL - Rare Disease experience

17.00 - ACGS AGM 2018

Day 2

09.30 - PHE/NHSE data collection & cancer variant interpretation group McRonald_ Turnbull

09.50 - The InSiGHT VIC 

10.10 - SIGNAL presentation Chris Anderson (Cardiff)

10.25 - GEL2MDT talk_HA2 Patrick Lombard (GOS)

11.10 - Brookes SolveRD

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

12:30-13:10 Lightning Presentation Session

14.10 - B Butler Wales

14.10 - C Scotland

14.10 - D Northern Ireland

 

 

 

 

Posters