Comprehensive short and long read sequencing analysis for the gaucher and parkinson⠒s disease-associated gba gene

HIGHLIGHTS

• who: Marco Toffoli from the Queen Square Institute University College London, London , PF, United Kingdom have published the research: Comprehensive short and long read sequencing analysis for the Gaucher and Parkinsonu2812s disease-associated GBA gene, in the Journal: (JOURNAL) of 28/Dec/2021
• what: The authors demonstrate complete resolution of all variant types in GBA is possible using either Gauchian analysis of Illumina WGS data or targeted ONT sequencing. The authors confirm GBA are more common in LBD than in PD the authors report the frequency of CNVs in different populations and suggest a possible . . .
  

   

  

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