Figure 1 | Genetics in Medicine

Figure 1

From: Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

Figure 1

Bioinformatics filtering and medical review of genes and alterations produced by exome sequencing. Bioinformatics and analysis variant classification schema. ACMG, American College of Medical Genetics and Genomics; AD, autosomal dominant; AR, autosomal recessive; ESP, NHLBI GO Exome Sequencing Project; HGMD, Human Gene Mutation Database; MAF, minor allele frequency; XLD, X-linked dominant; XLR, X-linked recessive; YL, Y-linked; 1000 Genomes, 1000 Genomes Project.

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