Fig. 3: Characteristics of variant found in the Colombian Cohort with RD. | European Journal of Human Genetics

Fig. 3: Characteristics of variant found in the Colombian Cohort with RD.

From: Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases

Fig. 3

A This figure shows the type of variants classified as P/PL (left) and VUS (right) in percentages. B The bar graph shows the type of variants according to their molecular impact among P/LP variants (left) and VUS (right), in percentages. As expected, there were more CNVs and indels among P/LP variants than among VUS (12% and 5% vs. 6% and 1%, respectively), with a predominance of nonsense and frameshift variants in the P/LP group compared to the VUS group (20.9% and 18.1% vs. 3.3% and 5%, respectively). The VUS group was composed mainly by missense and variants with unknown effect (e.g. noncoding variants). SNV single nucleotide variant, INDEL insertion/deletion variant, CNV copy number variant.

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