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If a patient's phenotype includes features that are relatively unique to a particular genetic condition, and that genetic condition is caused by a variant in one of ten different genes, exome sequencing would not be the best choice. In addition to it being more cost effective to test ten genes rather than an exome, exome sequencing will also have a lower depth of coverage at those ten genes, compared to a gene panel, which could, in theory, lead to false negative results.
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Question Text | If a patient's phenotype includes features that are relatively unique to a particular genetic condition, and that genetic condition is caused by a variant in one of ten different genes, exome sequencing would not be the best choice. In addition to it being more cost effective to test ten genes rather than an exome, exome sequencing will also have a lower depth of coverage at those ten genes, compared to a gene panel, which could, in theory, lead to false negative results.
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Topic | All topics |
Subject | Biology |
Class | Class 12 |