Audience: This webinar is geared towards those involved with genomic variation analysis and interpretation in a cytogenetics or molecular genetics lab.
Dr. Ingrid Simonic
Deputy Director, Medical Genetics Laboratories,
Cambridge University Hospitals, UK
The SAP scores for reported variants were evaluated retrospectively in order to assess their potential utility in variant filtering and classification. 211 routine diagnostic referrals analyzed using our integrated clinical exome pipeline were assessed. All included variants were discussed at multidisciplinary team meetings prior to reporting. Majority of the included variants were classed as VUSs and the associated SAP scores were evaluated for their utility in potential sub-classification of VUSs. Several clinical cases will be presented to illustrate our integrated analysis pipeline, including ‘genotype first’ scenarios, cases with more than one genetic diagnosis, tissue specific chimerism case and more.