Hereditary disease

Hereditary disease template workflows have been developed to support identification of disease-causing mutations in families.

Hereditary diseases can be non-cancer related diseases, such as inherited heart diseases or familial hypercholesterolemia, or it can be inherited cancers such as hereditary colorectal cancer or hereditary breast cancer. In addition to the hereditary diseases, family analysis can help researchers identify rare disease causing mutations that can be:

We offer workflows tailored to two family sizes, 1) a classical "Trio", consisting of a mother, father, and an affected child (the proband), and 2) a "Family of Four", which is mother, father, affected child, and either a sibling in the workflows that detects rare diseases or, in the workflows that detect inherited diseases, an other affected family member, e.g., a sibling or a grand-parent.

These workflows use the "Fixed Ploidy Variant Detection" tool, designed to call variants in samples with known ploidy from read mapping data.

Workflows designed to detect rare variants can both pick up de novo variants as well as compound heterozygous variants.

In addition to the Trio and Family of Four workflows, additional workflows exist that have been designed to pick up variants that are inherited from either the mother or the father.

The available workflows in this category are: