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Table 2 Examples of protocols in TGex

From: Genome analysis and knowledge-driven variant interpretation with TGex

Analysis Type
DescriptionMain SampleAssociated Samples
Single Sample ExomeRare genetic disordersProbandN/A
Trio ExomeRare genetic disordersProbandMother; Father
Tumor BiopsyCancer geneticsTumor biopsyMatched germline
Carrier ScreeningMendelian disordersVirtual offspringMother; Father
Health ScreeningCancer risk assessmentPatientN/A