Cargando…
False negatives in GBA1 sequencing due to polymerase dependent allelic imbalance
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 the allele...
Autores principales: | den Heijer, Jonas M., Schmitz, Arnoud, Lansbury, Peter, Cullen, Valerie C., Hilt, Dana C., Bonifati, Vincenzo, Groeneveld, Geert Jan |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7794395/ https://www.ncbi.nlm.nih.gov/pubmed/33420335 http://dx.doi.org/10.1038/s41598-020-80564-y |
Ejemplares similares
-
Experience in Genetic Counseling for GBA1 Variants in Parkinson's Disease
por: den Heijer, Jonas M., et al.
Publicado: (2020) -
A Large‐Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands
por: den Heijer, Jonas M., et al.
Publicado: (2020) -
A randomized single and multiple ascending dose study in healthy volunteers of LTI‐291, a centrally penetrant glucocerebrosidase activator
por: den Heijer, Jonas M., et al.
Publicado: (2021) -
Next-Generation Sequencing Analysis of GBA1: The Challenge of Detecting Complex Recombinant Alleles
por: Woo, Elizabeth G., et al.
Publicado: (2021) -
Contribution of allelic imbalance to colorectal cancer
por: Palin, Kimmo, et al.
Publicado: (2018)