Download Geneticist Assistant User`s Manual

Chapter 6
Geneticist Assistant Data Review
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“LOVD Data pane” on page 196.
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“dbSNP (*/00-All.vcf) pane” on page 196.
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“COSMIC (*/CosmicCodingMuts_*_noLimit.vcf) pane” on page 197.
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“Exome Variant Server (*/ESP*.vcf) pane” on page 197.
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“NIST (*/NISTIntegratedCalls_*.vcf) pane” on page 197.
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“ClinVar (*/clinvar_00-latest.vcf) pane” on page 198.
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“dbNSFP pane (Variant Prediction)” on page 198.
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“Associated Samples pane” on page 200.
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“Variant’s Reports pane” on page 201.
If any of the Reference panes are not displayed, contact SoftGenetics to download
the latest reference files.
Because so many panes can be displayed on the Variant tab, remember, you can
always select which panes to show and which to hide to make it easier for you to
review variant data. See “Show/hide a tab pane” on page 27.
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