Clinical Variant Interpretation

BIOL67951 Clinical Variant Interpretation 15 Semester 1 Postgraduate Taught Undefined Michael Cornell Unit coordinator School of Biological Sciences 1 FHEQ level (Framework for Higher Education Qualifications) ' Undefined ' European Credit Transfer & Accumulation System Rating : 7.5 This module will walk students through the process of clinical variant interpretation and the basics of relevant bioinformatics pipelines. It will consider the fundamental principles of variant classification including the variety of evidence used (population, phenotype, inheritance, predictive and functional data). There will be a focus on how this process is carried out in a clinical setting including an understanding of relevant guidelines, multidisciplinary team working and interpreting genomic variant reports. This module will walk students through the process of clinical variant interpretation and the basics of relevant bioinformatics pipelines. It will consider the fundamental principles of variant classification including the variety of evidence used (population, phenotype, inheritance, predictive and functional data). There will be a focus on how this process is carried out in a clinical setting including an understanding of relevant guidelines, multidisciplinary team working and interpreting genomic variant reports. Equip students with the understanding and skills required to carry out genomic variant classification in a clinical setting. 1. Interpret evidence (including population, phenotype, inheritance, predictive and functional data) used for variant classification.2. Apply relevant national and international guidelines to classify genomic variants.3. Discuss the strengths and limitations of variant interpretation in a multidisciplinary team (MDT) setting.4. Evaluate a range of genomic variant reports in human disease. •    The development of guidelines for variant interpretation of germline and somatic variants by ACMG and ACGS, •    The tools and databases used for interpreting variants and how they were developed. •    How evidence is evidence is combined to derive a classification. •    How variant interpretation can affect patient treatment. •    Ethical considerations of NGS.Students will be provided with a short list of variants derived from an NGS test. They will use a set of bioinformatic tools and databases and apply the outputs according to the current ACGS guidelines to identify a disease-causing variant. Students will be supported by synchronous, weekly discussion tutorials over six weeks.  9 Set exercise 100% An individual assignment consisting of short answer questions covering the variant interpretation process. Written feedback via Canvas. N 0 0 150