Systematic Inference of Copy-Number Genotypes from Personal Genome Sequencing Data Reveals Extensive Olfactory Receptor Gene Content Diversity
Figure 5
Heritability of CNVs in a parent-offspring trio of European ancestry.
A. Chromosomal origin of the largest human OR genomic cluster and pedigree of the European family. B–D. CNV inheritance, indicated in terms of scaled read-depth ratios and inferred copy-number genotypes among 96 bi-allelic OR loci located in the largest human OR cluster (11@55.6; see nomenclature in http://genome.weizmann.ac.il/horde/; chr11:54,842,512–56,344,668). The x-axis represents genomic coordinates, and individual OR positions are marked by ticks. The copy-number genotypes identified in NA12891 (B), NA12892 (C), and NA12878 (D), were inferred based on low-coverage genomic data (Table S1) and are consistent with Mendelian segregation. Bi-allelic CNVs were classified according to copy-number genotypes identified in the European (CEU) individuals. Copy-number genotypes are color-coded: ‘1’, orange; ‘2’, grey; ‘3’, blue.