Proportion of different genomic elements in the captured samples with and without COT-I DNA as compared to their relative abundance in the human genome.

<p>Reads were mapped to the reference human genome using BLAT, allowing 2 mismatches and 1 indel with a minimal perfect match of 30 bp.</p

Number of sequence reads extracted from intensity files using Illumina and Rolexa analysis.

<p>Number of sequence reads extracted from intensity files using Illumina and Rolexa analysis.</p

SNPs in the coding sequences of the genes from the target region.

<p>SNPs in the coding sequences of the genes from the target region.</p

Distribution of percentages of a minor variant for SNPs as recovered by Illumina sequencing.

<p>Red: homozygous SNPs, blue: heterozygous SNPs. Solid line: HapMap SNPs, dashed line: new SNPs.</p

Numbers of homozygous and heterozygous SNPs identified in NA12782 at different sequence coverage thresholds.

<p>Numbers of homozygous and heterozygous SNPs identified in NA12782 at different sequence coverage thresholds.</p

Distribution of sequence features of regions and corresponding probes with low (<3 fold) and normal (15-29 fold) sequence coverage.

<p>A,B) Length of the regions/probes. C,D) Percentage of low complexity DNA inside the regions/probes. E,F) GC content of regions/probes. G) Hybridization temperature of the probes.</p

Enrichment of target regions.

<p>All sequencing tags that map uniquely to the reference human genome are displayed in blue. The height of peaks corresponds to the number of tags mapping to the same location. Red circles represent genomic areas plotted on the array. The image was generated using Genome Graphs (<a href="http://genome.ucsc.edu/cgi-bin/hgGenome" target="_blank">http://genome.ucsc.edu/cgi-bin/hgGenome</a>).</p

Comparison of SNPs recovered in this study using different thresholds of sequence coverage (4- and 15-fold) with HapMap SNPs.

<p>Comparison of SNPs recovered in this study using different thresholds of sequence coverage (4- and 15-fold) with HapMap SNPs.</p

Histogram of dbSNP positions coverage on chromosome 21.

<p>Histogram of dbSNP positions coverage on chromosome 21.</p