Figure 1: Regulatory Variants as Modifiers of Coding Variant Penetrance (IMAGE)

New York Genome Center

Figure 1: Regulatory Variants as Modifiers of Coding Variant Penetrance

Caption

The hypothesis of the study is illustrated with an example in which an individual is heterozygous for both a regulatory variant and a pathogenic coding variant. The two possible haplotype configurations would result in either decreased penetrance of the coding variant, if it was on the lower-expressed haplotype, or increased penetrance of the coding variant, if it was on the higher-expressed haplotype.

Credit

New York Genome Center

Usage Restrictions

None

License

Licensed content

Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.