Monday 12th April
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Familial Hypercholesterolaemia: LIPOchip® experience - Laura Yarram
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Proof of Principle for the Non-Invasive Prenatal Diagnosis of Fetal Trisomy 21 - Sarah Fielding
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High density array comparative genomic hybridisation (aCGH) for dosage analysis and rapid breakpoint mapping in Duchenne Muscular Dystrophy (DMD) - Victoria Cloke
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Validation of Methylation Specific PCR for the detection of large FMR-1 expansion mutations in males and females - Stacey Mutch
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Mutation detection by massively parallel resequencing of solution-captured human genomic loci - Frances Smith
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SDHB and SDHD Mutation Analysis in Renal Oncocytomas and Chromophobe Renal Cell Carcinomas - Joanne Ramsey
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Validation of diagnostic and minimal residual disease monitoring assays for mutations in nucleophosmin (NPM1) in a cytogenetically-normal acute myeloid leukaemia (CN-AML) patient cohort - Rachel Coleman
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A Study of Genetic Susceptibility to Hodgkin’s Lymphoma in a Cohort of Families - Abigail Rousseau
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Development of Molecular Methodologies for the Enhanced Detection of Tumour Biomarkers - Michelle Wood
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Development of an EGFR/KRAS testing service for Non-Small Cell Lung Cancer - Joel Tracey
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Guest Lecture - DNA sequencing: a generation game - Dr John Milton - Oxford Nanopore
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The Locus Reference Genomic (LRG) DNA sequence format for LSDBs - Raymond Dalgleish
