This course will address the scientific aspects of human genetics and genomics that underpin clinical practice, focusing on the latest scientific, technological and bioinformatics developments. It is aimed at consultants and trainees in clinical genetics currently employed in the UK, and is designed to equip attendees with the skills required to work, teach and publish in the era of next-generation sequencing.

The programme covers the following areas: genomic variation; sequence data analysis; gene transcription; gene regulation and gene-environment interactions; phenotyping; disease mechanisms and mosaicism; choosing the most appropriate test and evaluating the results. This year’s course will feature two workshops. The first will focus on variant interpretation, which will include information on the resources available to filter and interpret data from genome-wide assays. The second will equip attendees with the skills to use the ACMG variant classification and assessment tools in DECIPHER. There will also be a session focusing on genomics education.

First held in 2008, this course is endorsed by the Clinical Genetics Society and the Royal College of Physicians, London, for continuing professional development of clinical geneticists and is relevant for revalidation. This course has been awarded 18 CPD credits by the
Royal College of Physicians.

Numbers are limited on this residential course to optimize discussions and interactions with tutors; therefore, early registration is advised.

Learning outcomes
After attending this course, participants will be able to:

  • Appreciate the extent of variation in the human genome.
  • Describe the current concept of a gene (including structure, transcription and regulation).
  • Consider the sensitivity and specificity of various approaches to genomic analysis (e.g. filtering strategies, virtual panels, whole exome sequencing/whole genome sequencing, proband only and trio analysis).
  • Select appropriate resources (e.g. ExAC, gnomAD) to evaluate variants.
  • Use the repertoire of tools in DECIPHER including the ACMG variant classification tool and the assessment tool.

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