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GENOMICS-BASICS5 MIN READ

DNA Reads Are Evidence, Not Answers

Distinguish raw DNA sequence data from clinical interpretation.

The first skill in genomics is slowing the claim down. A DNA read tells you what letters were observed. It does not automatically tell you whether a patient is sick, whether a drug should change, or whether a family member is at risk. Layer 1: The Observation Ask what was actually measured: a targeted variant, one gene, a gene panel, an exome, a genome, RNA expression, or a protein activity. The method controls what can be seen and what can be missed. Layer 2: The Annotation Ask how the difference was named and placed. A variant needs a reference sequence,…

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