American Society of Hematology

Figure 1.

$Technical evaluation and output from the HHT panel of the ThromboGenomics platform. (A) Histogram of mean coverage in 183 samples over the targeted regions of the 4 targeted genes (ENG, ACVRL1, SMAD4, and GDF2). (B) The fraction of targeted exonic bases covered at the specified depth (0×-50×) or more, averaged over samples. The solid black line indicates exonic bases and demonstrates that on average, 99.99% of the targeted exonic bases are covered by at least 50 sequencing reads. The dashed red line indicates bases that lie within Human Genome Mutation Database (HGMD) variants and demonstrates that they are all covered by at least 50 sequencing reads. (C) Coverage profile for the GDF2 gene encoding BMP9 on chromosome 10, mapped against the corresponding transcript (orange), which indicates the position and size of the 2 GDF2 exons. The pale blue bars indicate the targeted region, and the 3 traces above indicate the median and 5th and 95th percentile coverage across the locus. Despite the high coverage, no pathogenic variants were identified in the cohort. Equivalent plots for ENG, ACVRL1, and SMAD4 are provided in supplemental Figure 2. (D) Schematic of the classification of the 127 distinct candidate variants identified by the platform. VUS, variant of uncertain significance.$

Technical evaluation and output from the HHT panel of the ThromboGenomics platform. (A) Histogram of mean coverage in 183 samples over the targeted regions of the 4 targeted genes (ENG, ACVRL1, SMAD4, and GDF2). (B) The fraction of targeted exonic bases covered at the specified depth (0×-50×) or more, averaged over samples. The solid black line indicates exonic bases and demonstrates that on average, 99.99% of the targeted exonic bases are covered by at least 50 sequencing reads. The dashed red line indicates bases that lie within Human Genome Mutation Database (HGMD) variants and demonstrates that they are all covered by at least 50 sequencing reads. (C) Coverage profile for the GDF2 gene encoding BMP9 on chromosome 10, mapped against the corresponding transcript (orange), which indicates the position and size of the 2 GDF2 exons. The pale blue bars indicate the targeted region, and the 3 traces above indicate the median and 5th and 95th percentile coverage across the locus. Despite the high coverage, no pathogenic variants were identified in the cohort. Equivalent plots for ENG, ACVRL1, and SMAD4 are provided in supplemental Figure 2. (D) Schematic of the classification of the 127 distinct candidate variants identified by the platform. VUS, variant of uncertain significance.

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