Output from the Rare Disease Causing Mutations in a Trio (WES) workflow
Twelve different types of output are generated:
- Reads Tracks One for each family member. The reads mapped to the reference sequence.
- 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.
- De novo variants 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 Variant track showing recessive variants in the proband. The variant track can be opened in table view to see all information about the variants.
- 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.
- Gene List with de novo Variants 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.
- Target Region Coverage 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.
- Target Region Coverage One track for each individual. When opened in table format, it is possible to see a range of different information about the targeted regions, such as target region length, read count, and base count.
- 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