Presentations

Talks and Workshops

BSGM-ACGS UK Clinical Genomics 2021, January 2021 – “The Scottish Trio Whole Exome Service”,

ESHG 2020 – “Interpreting Genetic Variation in Clinical Research using Ensembl: The MANE Project”, Berlin, Germany (virtual meeting)

TGMI Clinical Curation Workshop, December 2019, MRC Human Genetics Unit, Edinburgh, UK

ASHG 2019 – “The Matched Annotation from NCBI and EMBL-EBI (MANE) Project”, Houston, TX, USA

Curating the Clinical Genome 2019 – “Transcript Curation for the Clinical Use Case: LRG and MANE”, Washington, DC, USA

Global Alliance for Global Health Plenary Meeting 2018 – “Transcript Choice Workshop”, Basel, Switzerland

Association for Clinical Genomic Science Meeting 2018 – “Work by Ensembl and NCBI to align the GENCODE and RefSeq transcripts”, Birmingham

Posters

ESHG 2020, June 2020, Berlin, Germany (virtual)

Genomics of Rare Diseases 2020, March 2020, Hinxton, UK (virtual)

ASHG 2019, October 2019, Houston, TX, USA

ESHG 2019, June 2019, Gothenburg, Sweden

Genomics of Rare Diseases 2019, March 2019, Hinxton, UK

ASHG 2018, October 2018, San Diego, CA, USA

ESHG 2018, June 2018, Milan, Italy

Curating the Clinical Genome, May 2018, Hinxton, UK

Genomics of Rare Diseases, March 2018, Hinxton, UK

Training

EMBL-EBI Training – Exploring Human Genetic Variation, February 2020

EMBL-EBI Training- Ensembl Gene Annotation for Clinical Genomics, 2019

EMBL-EBI Training – Exploring Human Genetic Variation, 2019

University of Cambridge Genomic Medicine Module – Genome Annotation and Reference Sequences, 2019

ClinGen BioCurator Working Group Training – The MANE Project, 2019

EMBL-EBI Training – Exploring Human Genetic Variation, 2018

University of Cambridge Genomic Medicine Module – Genome Annotation and Reference sequences, 2018