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False negatives in GBA1 sequencing due to polymerase dependent allelic imbalance

8 Jan 2021

Abstract excerpt

Abstract A variant in theGBA1gene is one of the most common genetic risk factors to develop Parkinson’s disease (PD). Here the serendipitous finding is reported of a polymerase dependent allelic imbalance when using next generation sequencing, potentially resulting in false-negative results when the allele frequency falls below the variant calling threshold (by default commonly at 30%). The fullGBA1gene was...

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PMID: 33420335
DOI: 10.1038/s41598-020-80564-y

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