Fundamentals of Clinical Genomics 2018

Start Date: 17/01/2018

End Date: 19/01/2018

Cost: £285- £360

Venue: Wellcome Genome Campus, Hinxton, UK


Helen Firth, Addenbrookes Hospital Cambridge

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.

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