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Molecular Pathogensis II - Coggle Diagram
Molecular Pathogensis II
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DNA Testing
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Genome wide
Exome (WES)
sequence exons of protein-coding genes, including flanking intron and into promoter, 2% of genome (usually searching for pathogenic variant)
Genome (WGS)
Entire genome is sequenced, requires much more bioinformatic analysis
Variants of Unknown Significance (VUS) are possible outcomes of DNA testing and are difficult to interepret
Can't be sure whether it's pathogenic or not, difficult to interpret, very frustrating for patients
DNA tests may reveal incidental/secondary findings; there are guidlines for reporting such in certain genes
Recommended that the clinician inform the patient of secondary findings where there is clear/probably pathogenic mutation that is actionable
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