Output from the Rare Disease Causing Mutations in a Trio (WGS) workflow
Eleven types of output are generated:
- Read Mapping One for each family member. The reads mapped to the reference sequence.
- Filtered Variant Tracks One for each family member. The variants identified in each of the family members. The variant track can be opened in table view to see all information about the variants.
- Read Mapping Report One for each family member. The report consists of a number of tables and graphs that in different ways provide information about the mapped reads from each sample.
- De novo variants Filtered variant track showing de novo variants in the proband. The variant track can be opened in table view to see all information about the variants.
- Recessive variants Filtered variant track showing recessive variants in the proband. The variant track can be opened in table view to see all information about the variants.
- Gene List with Putative Causal Variants Proband Gene track with the identified putative compound heterozygous Variants in the proband. The gene track can be opened in table view to see the gene names.
- Gene List with recessive Variants Gene track with the identified recessive variants in the proband. The gene track can be opened in table view to see the gene names.
- Identified Compound Heterozygous Genes Proband Gene track with the identified putative compound heterozygous Variants in the proband. The gene track can be opened in table view to see the gene names.
- Genome Browser View This is a collection of tracks shown together in a view that makes it easy to compare information from the individual tracks, such as compare the identified variants with the read mappings and information from databases.
- De novo Mutations Amino Acid Track
- Recessive Variants Amino Acid Track