In this on-demand webinar, Professor Matthew Hurles covers:
- The UK-wide Deciphering Developmental Disorders study, focusing on:
- exome sequencing of parent-offspring trios
- clinical interpretation workflow
- what factors influence diagnostic yield
- discovery of novel disorders
- An overview of the UK-wide Prenatal anomalies (PAGE) study
- The DECIPHER web portal to improve variant interpretation
- And the future of variant interpretation, inclusion of large-scale functional data.
