False negatives in GBA1 sequencing due to polymerase dependent allelic imbalance

False negatives in GBA1 sequencing due to polymerase dependent allelic imbalance

Abstract A variant in the GBA1 gene 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 t...

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Autores principales: Jonas M. den Heijer, Arnoud Schmitz, Peter Lansbury, Valerie C. Cullen, Dana C. Hilt, Vincenzo Bonifati, Geert Jan Groeneveld
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/db9c836049f440f78b8e0d48151c2188
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