Supplementary Figure 1. Non-cumulative histogram of fold-coverage across 12 exomes.

Supplementary Figure 1. Non-cumulative histogram of fold-coverage across 12 exomes.

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The supplementary figures and tables provide detailed insights into the performance and results of exome sequencing. Supplementary Figure 1 shows the non-cumulative histogram of fold-coverage across 12 exomes, indicating the distribution of mappable, targeted bases. Supplementary Figure 2 illustrates the distribution of gene completeness, showing the fraction of coding bases covered at least 1x or with sufficient coverage for variant calling. Supplementary Figure 3 compares cSNPs identified by exome sequencing and whole genome sequencing, highlighting the overlap and discrepancies between the two datasets. Supplementary Figure 4 and 5 compare minor allele frequencies and lengths of novel versus previously annotated coding indels. Supplementary Figure 6 demonstrates the identification of causal genes for a monogenic disorder through exome sequencing. Supplementary Table 1 provides summary statistics on the sequencing of twelve exome-enriched shotgun libraries, while Supplementary Table 2 compares exonic or exomic array-based capture metrics with past reports. Supplementary Table 3 lists coding indels across 12 human exomes, and Supplementary Table 4 shows the numbers of various variants observed in each individual. Supplementary Table 5 includes sequences of oligonucleotides used for library construction or blocking.The supplementary figures and tables provide detailed insights into the performance and results of exome sequencing. Supplementary Figure 1 shows the non-cumulative histogram of fold-coverage across 12 exomes, indicating the distribution of mappable, targeted bases. Supplementary Figure 2 illustrates the distribution of gene completeness, showing the fraction of coding bases covered at least 1x or with sufficient coverage for variant calling. Supplementary Figure 3 compares cSNPs identified by exome sequencing and whole genome sequencing, highlighting the overlap and discrepancies between the two datasets. Supplementary Figure 4 and 5 compare minor allele frequencies and lengths of novel versus previously annotated coding indels. Supplementary Figure 6 demonstrates the identification of causal genes for a monogenic disorder through exome sequencing. Supplementary Table 1 provides summary statistics on the sequencing of twelve exome-enriched shotgun libraries, while Supplementary Table 2 compares exonic or exomic array-based capture metrics with past reports. Supplementary Table 3 lists coding indels across 12 human exomes, and Supplementary Table 4 shows the numbers of various variants observed in each individual. Supplementary Table 5 includes sequences of oligonucleotides used for library construction or blocking.
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[slides] Targeted Capture and Massively Parallel Sequencing of Twelve Human Exomes | StudySpace