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A trait that occurs more frequently in relatives than in the general population. The trait can be due to genetics, the environment, or both.
A series of decisions an investigator makes after performing massively parallel sequencing to narrow down a list of candidate genetic variants from thousands to a few variants which may cause disease in an individual or family.
Fluorescence in situ hybridization
The insertion or deletion of a nucleotide, or nucleotides which is not a multiple of three that results in an alteration of the codon reading frame and may result in a premature stop codon or truncated protein product (also known as out-of-frame deletion, out-of-frame insertion) May be denoted as frameshift (INDEL).
See frameshift variant