Distribution of rare variants according to gene-level supporting evidence, ACMG clinical classification and minor allele frequency filtering.

<p>Distribution of rare variants according to gene-level supporting evidence, ACMG clinical classification and minor allele frequency filtering.</p

Classification of the novel variants identified in the NGS cohort.

<p>Classification of the novel variants identified in the NGS cohort.</p

Novel variants of unknown significance in <i>TTN</i> gene that are deleterious according to multiple in silico predictors.

<p>Novel variants of unknown significance in <i>TTN</i> gene that are deleterious according to multiple in silico predictors.</p

Novel pathogenic/likely pathogenic variants found in validated sarcomere genes.

<p>Novel pathogenic/likely pathogenic variants found in validated sarcomere genes.</p

Rare variants (MAF <0.002) in the 5 most frequent sarcomere genes, 25 genes associated with or candidate for HCM and 24 genes (same panel excluding <i>TTN</i>).

<p>Rare variants (MAF <0.002) in the 5 most frequent sarcomere genes, 25 genes associated with or candidate for HCM and 24 genes (same panel excluding <i>TTN</i>).</p

Classification of rare variants in <i>MYBPC3</i>, <i>MYH7</i>, <i>TNNI3</i>, <i>TNNT2</i> and <i>TPM1</i> (pooled data from Sanger sequencing and NGS cohorts).

<p>Classification of rare variants in <i>MYBPC3</i>, <i>MYH7</i>, <i>TNNI3</i>, <i>TNNT2</i> and <i>TPM1</i> (pooled data from Sanger sequencing and NGS cohorts).</p

Cases with confirmed CNVs.

<p>NGS results, schematic representation of the breakpoints and precise characterization by Sanger sequencing of (<b>A</b>) the deletion of exon 27 of <i>MYBPC3</i> (P168, brown sample in the graph), (<b>B)</b> the deletion spanning from exon 4 to exon 12 of <i>MYBPC3</i> (P259, turquoise sample in the graph), and (<b>C</b>) the well-characterized <i>PLN</i> deletion (blue sample in the graph). (<b>D</b>) NGS results are shown for the non-characterized <i>PLN</i> deletion (orange sample in the graph).</p