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13:30 AI-driven rare disease phenotype representation with application to diagnostics Michael Yates ( University of Edinburgh) 13:40 An Audit for Whole Genome Sequencing of 8000 diagnostic cases as part of the Genomic Medicine Service Gavin Ryan ( Regional Genetics Laboratory, Birmingham) 13:45 Functional genomics supporting diagnosis and therapy in phenylketonuria (PKU) – A national cohort study Rachael E McNeilly (Bristol Genetics Laboratory) 13:50 Biallelic UGGT1 gene variants cause a congenital disorder of glycosylation Laura Harrold (University of Exeter Medical School) 14:00 Leveraging natural language processing for a service improvement model in familial thoracic aortic aneurysm Alexander Deng (Guy's and St Thomas's NHS Foundation Trust) 14:05 Keeping up with新的基因发现：一种简单的计算方法，用于重新分析基因组数据fiona Price-kuehne（伦敦大学儿童健康研究所）14:10阐明了肌醇多磷酸磷酸磷酸磷酸酶磷酸磷酸酶Inpp4a inpp4a ppp4a相关的神经发育疾病的临床和遗传谱，并测试了exeter（exeter of Exeter of Exeter）14:15 Irlord：14:15 irliand：14:15通过基因测试视频（Genvid）研究：革命或进化，促进及时且公平的Emma Baple（ACGS稀有疾病位置陈述工作组）14:40对遗传性心脏条件的新基因测试途径的评估：一场革命或进化？一项多站点调查研究RIA Patel（伦敦大学医学院）Lisa Bryson (West of Scotland Clinical Genetics Service, Glasgow) 14:45 UK population primary care electronic health record databases are valuable but underutilised resources for studying rare genetic conditions Thomas Wright (Manchester University NHS Foundation Trust) 14:50 Are we effectively supporting parents making decisions about whole genome sequencing in the Genomic Medicine Service?
大数据和AI（沃尔夫森演讲剧院）ple
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