Fig. 1: Filtering approach for mt-aaRS variants.
From: A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort
Initial query within the RD-Connect Genome-Phenome Analysis Platform yielded 145 distinct variants found likely in a compound heterozygous position and 13 homozygous variants. Variants were excluded from the more uncommonly detected genes or where phenotype data were not available. After performing manual quality checks among the variants in genes of interest, there remained 54 distinct variants in the likely compound heterozygous cohort (27 individuals) and 10 homozygous (11 individuals) variants, a total number of 63 variants (38 individuals). HPO: Human Phenotype Ontology.
