Fig. 2.
Quality/frequency filter algorithm. Filtering criteria used for coding-variant interpretation. Variants were filtered on genotype quality, coverage, and allele frequencies. Variants removed by quality filters were classified as 0 and frequency filters as class 1, with the remaining assessed for pathogenicity (class 2–5) based on data present in the Human Gene Mutation Database (HGMD) and locus-specific databases (LSDBs). MAF = minor allele frequency; MPG = most probable genotype; NHLBI ESP = The National Heart, Lung, and Blood Institute, exome sequencing project.

Quality/frequency filter algorithm. Filtering criteria used for coding-variant interpretation. Variants were filtered on genotype quality, coverage, and allele frequencies. Variants removed by quality filters were classified as 0 and frequency filters as class 1, with the remaining assessed for pathogenicity (class 2–5) based on data present in the Human Gene Mutation Database (HGMD) and locus-specific databases (LSDBs). MAF = minor allele frequency; MPG = most probable genotype; NHLBI ESP = The National Heart, Lung, and Blood Institute, exome sequencing project.

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