Fig. 1: A scheme for variant annotation, filtering and classification. | Genetics in Medicine

Fig. 1: A scheme for variant annotation, filtering and classification.

From: Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss

Fig. 1

Variants classified as pathogenic, likely pathogenic, and variant of uncertain significance favor pathogenic (VUSfp) were considered diagnostic for pregnancy loss. ACMG American College of Medical Genetics and Genomics, AF allele frequency, P/LP pathogenic/likely pathogenic, SAB spontaneous abortion, UTR untranslated region.

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