Fig. 1: Filtering strategy to identify pathogenic mutation. | Communications Biology

Fig. 1: Filtering strategy to identify pathogenic mutation.

From: CRISPR-mediated gene correction links the ATP7A M1311V mutations with amyotrophic lateral sclerosis pathogenesis in one individual

Fig. 1

Trio whole genome sequencing was performed for the patient and his healthy parents to annotate inherited and de novo mutations. Candidate variants were prioritized according to measures of functional importance including allele frequency, high impact consequences, or in silico analysis. Variants were further prioritized using network-based prioritization or pathogenity scores. Nine variants were determined to be high priority; this list was narrowed down by review of related diseases, predicted genomic function, and selection of candidates with zygosity analysis. The final candidate mutation, ATP7A M1311V, was selected after a review of literature for neurodegenerative disease.

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