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A TAXONOMIC SCHEMA OF POTENTIAL PITFALLS IN CLINICAL VARIANT ANALYSIS BASED ON REAL-WORLD EVIDENCE

2022-04-09

Abstract excerpt

<p>The classification and interpretation of genetic variants associated with genetic disease have been shown to vary between clinical genetic laboratories. This can lead to errors introduced in the interpretation and public presentation of genetic findings in the literature and available databases. This qualitative study utilizes real-world evidence to introduce a taxonomic schema of potential pitfalls associated...

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Literature Corpus work: 26280297-812f-5572-98bb-ab85c08ec67d
DOI: 10.31234/osf.io/b6y5q

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