Variant Interpretation: Functional Assays to the Rescue.

ABSTRACT: Classical genetic approaches for interpreting variants, such as case-control or co-segregation studies, require finding many individuals with each variant. Because the overwhelming majority of variants are present in only a few living humans, this strategy has clear limits. Fully realizing the clinical potential of genetics requires that we accurately infer pathogenicity even for rare or private variation. Many computational approaches to predicting variant effects have been developed, but they can identify only a small fraction of pathogenic variants with the high confidence that is required in the clinic. Experimentally measuring a variant's functional consequences can provide clearer guidance, but individual assays performed only after the discovery of the variant are both time and reso

SUBMITTER: Starita LM 

PROVIDER: S-EPMC5590843 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature