Figure 2.
Mapping, capture, and sequencing of 148 genes in the MCSG locus. (a) Homozygosity analysis in four pedigrees (LIS-900, LIS-2600, MC-1400 and MC-1600) revealed a 7.5 Mb interval on chr19, bounded by SNP markers rs17581484 and rs4802998. Homozygous SNPs are shown in red or blue, heterozygous SNPs are shown in yellow, and SNPs for which no genotype could be assigned are shown in white. The homozygous region contained 148 annotated UCSC genes. (b) Custom Nimblegen microarrays were designed to target all coding and noncoding regions of the 85 genes in the center of the linkage peak and all exonic regions of the remaining 63 genes (upper green track; the location of probes on the array is shown on the lower track). These were used to capture genomic DNA and generate sequencing libraries from two individuals, LIS-903 and LIS-2602. (c) Libraries were sequenced on a Illumina GA II to an average depth of >200X and completeness of 88–90% (bases covered by >= 10 reads). Depth of sequence coverage over the region is shown.