SoftGenetics - Software PowerTools for Genetic Analysis
 
       

 

Family & Trio Comparison with Geneticist Assistant™ Interpretive Workbench

Geneticist Assistant® Interpretive Workbench can be used to create comparisons between samples of family members based on relationship and phenotype information. This is a useful tool for identifying variants that are consistent with a defined inheritance pattern when samples for related individuals have been sequenced in order to obtain a refined list of variants of interest.

Comparison results are displayed in a new Family Comparison tab which displays only variants that match the inheritance pattern selected.

 

 

The Family Comparison tab displays the results of the family based comparison, showing sample specific values for coverage, allele frequency and read balance for each sample on the left side. Samples are identified using pedigree symbols and sample name, relationship and phenotype can be shown by hovering the mouse over any of the sample columns.

 

To utilize this function VCF, and optionally BAM files, can be imported for multiple family members. Geneticist Assistant’s patient import function can be used to import patient IDs, phenotypes and relationship information for all related patients. Imported samples can then be automatically associated with the appropriate patient ID.

 

 

Options for the Family Comparison function, including relationships and phenotype, are automatically selected based on patient information in the database, when provided. Options can also be manually defined using the dropdown menus.

 

Geneticist Assistant’s Family Comparison function can be used for comparison when data for at least two parents and one child is available. Any number of children can be included in the comparison.

SoftGenetics - Software PowerTools for Genetic Analysis

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