Methods and apparatus for identification of disease associated mutations

摘要

In some embodiments, a non-transitory processor-readable medium includes code to cause a processor to receive a set of variants identified by a comparison of a test DNA sequence with a reference DNA sequence and associate at least one of the set of variants with at least one of a set of annotations each indicative of at least one criterion. The code includes code to cause the processor to filter, based on the set of annotations, the set of variants to identify a subset of variants from the set of variants. Each variant from the subset of variants is associated with at least one common annotation from the set of annotations. The code further includes code to cause the processor to present the subset of variants such that the subset of variants can be used to render a clinical diagnosis.