Supporting data for the "Development of tailored NGS data analysis pipeline for the diagnosis of Neuromuscular disorders"

This dataset is an excel file that summarises information of patients that found potential causal variant(s) or VUS(s)  incompatible with the clinical diagnosis. It includes patients' gender, symptom onset age, age at last follow-up, clinical presentation, provisional clinical diagnosis, prior genetic test and results, availability of the WES and WGS data, and WES and WGS of their parents. 

The first sheet is the patients that found potential causal variants. The last three columns are the identified potential causal variants, gene of the variants, inheritance model, ACMG guideline classification of the variants.

The second sheet is the patients found VUS(s) incompatible with the clinical diagnosis. The last three columns are the identified VUS(s) incompatible with the clinical diagnosis, gene of the VUS(s), ACMG guideline classification of the VUS(s).