Predefined filters¶
This section contains a description of all pre-defined filter sets and decision trees.
Filters¶
The following simple filters are built-in:
Candidate variants for autosomal dominant inheritance
Candidate variants for homozygous recessive inheritance
Candidate variants for compound heterozygous recessive inheritance
Candidate variants for X-linked inheritance
Variants, possibly affecting splicing
Variants with in-silico damaging predictions
Decision trees¶
The following inclusion and exclusion criteria are built-in in AnFiSA as Decision Trees:
An American College of Medical Genetics and Genomics (ACMG) list of 73 genes, in which mutations are known to be pathogenic.
Rare variants for a trio
Variants for analysis of undiagnosed diseases
Variants with damaging predictions
Possible hearing loss pathogenic variants
The details are provided in the supplementary materials of the AnFiSA paper //TODO:link.