Output from the Identify Rare Disease Causing Mutations in a Family of Four (WES) workflow
Seven 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.
- Compound Heterozygous Variant Contribution Father The putative compound heterozygous Variants from the father. The variant track can be opened in table view to see all information about the variants.
- Compound Heterozygous Variant Contribution Mother The putative compound heterozygous Variants from the mother. 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.
- Genes with Compound Heterozygous Variants Father Gene track with the putative compound heterozygous Variants from the father. The gene track can be opened in table view to see the gene names.
- Genes with Compound Heterozygous Variants Mother Gene track with the putative compound heterozygous Variants from the mother. 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.
- 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.
- 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.
- 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.