Using population data to aid variant interpretation

In this short lecture, Dr Kailtin Samocha, from the Massachusetts General Hospital, United States of America, discusses the significance of population data in variant interpretation and classification within genomics. By analysing patterns in reference populations, researchers can better understand individual genetic variations.

She also has given an overview of how to apply databases like gnomAD to filter out common variants to access rare variants and the impact of increased sample size and genetic diversity to improve variant filtering accuracy, particularly in assessing variants of uncertain significance across different genetic ancestry groups. You may wish to refer to the variant interpretation workflow that was previously introduced in the step Genomic variant interpretation workflow.