Analysis Nodes¶
Source Nodes¶
Provide a source of variants
All Variants¶
All variants in the database.
Cohort¶
A collection of related samples, eg “control group” or “poor responders”
Classifications¶
Pedigree¶
Variants from family samples filtered by genotype according to inheritance models
Sample¶
A sample, usually one genotype (patient, cell or organism) with a set of variants.
Trio¶
Mother/Father/Proband - filter for recessive/dominant/denovo inheritance
Filter Nodes¶
These nodes filter variants connected to the top of them
Built In Filter¶
Built in filters used in node counts eg High or Moderate Impact / OMIM / ClinVar Pathological
Damage¶
Filter to damage predictions
Filter¶
Filter based on column values
Gene List¶
Filter to a list of gene symbols
Intervals Intersection¶
Filter based on intersection with genomic ranges (eg .bed files)
Merge¶
Merge variants from multiple sources
Phenotype¶
Filter to gene lists based on ontology keywords
Population¶
Filter on population frequencies in public databases (gnomAD/Exac/1KG/UK10K) or number of samples in this database.
Tissue Expression¶
Filter based on tissue specific expression (from Human Protein Atlas)
Venn¶
A filter based on set intersections between parent nodes
Zygosity¶
Compound HET and other Zygosity filters