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.
