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At a given locus, the nucleotide seen least frequently in a given population. An allele is considered rare when it has a frequency of less than 1% in a given population.
A structural alteration of a chromosome which results in an abnormal configuration, such as an inversion or translocation, and may interrupt a gene sequence. Chromosomal rearrangements are typically identified on a karyotype.
A characteristic, trait, or disorder which is phenotypically expressed when two variant alleles are present.
The DNA sequence of an organism created from the combined DNA sequences of multiple individuals. It is considered to represent the common genetic information in humans and is a useful to for genetic analyses.
The sequencing of a specific exon or genomic region for the identification of DNA variants. Often performed to screen a large population for a gene of interest, or to confirm a DNA variant identified by massively parallel sequencing.
Restriction fragment length polymorphism
Reverse transcriptase quantitative PCR