Laboratory Corporation of America Holdings
Methods, Compositions, and Systems for Classification of Genetic Variants of Unknown Significance

Abstract:

Disclosed are methods, compositions, and systems for classification of genetic variants of unknown significance (VUS). For example, disclosed is an in vitro method for assessing the functional effect of a somatic variation in a target sequence comprising obtaining a biological sample from a subject, performing a genotyping assay on the biological sample to identify a variant of unknown significance at a target sequence, generating a population of cells containing the nucleotide modification at the target sequence, and determining if the population of cells containing the nucleotide modification exhibit at least one different functional characteristic as compared to a population of cells not containing the nucleotide modification. The method may also include generating a database of the plurality of variants of unknown significance and comparing patient samples to the database to make diagnostic determinations and treatment decisions.