Fig. 5

Genome quality metrics. Metrics from 225 individual genomic libraries (Additional file 1) from 184 Personal Genome Project (PGP) participants are plotted in each panel. Each dot represents a single genomic library from a PGP sample and is colored by ethnicity as follows: blue, Unreported (Urp); light green, White (Wht); purple, Asian (Asn); dark red, Hispanic or Latino (Hsp); light orange, American Indian/Alaska Native/White (Aaw); light blue, Black or African American (Blk); pink, Asian/White (Awt); dark blue, Asian/Hispanic or Latino (Asp); light purple, Hispanic or Latino/White (Hsw). The large red colored dot in panels a, c–f represents the average across the PGP data set. a The percent called across the genome is plotted on the x-axis and the percent called across the exome is plotted on the y-axis. b The total number of variant sites per genome is plotted on the y-axis and the ethnic group to which each sample was self-reported is plotted on the x-axis. Red colored dots represent the average number of single nucleotide polymorphisms (SNPs) in each population group as reported by the 1000 Genomes (1KG) project [9]. The ethnic groups in our study without a red dot lack a representative population in the 1KG data. c The heterozygous to homozygous SNP ratio (Het/Hom) is plotted on the y-axis and transition to transversion ratio (Ts/Tv) is plotted on the x-axis. d The SNP phasing rate is plotted on the y-axis and the N50 length of the assembled haplotype contigs in kilobases (kb) is plotted on the x-axis. e The average Long Fragment Read (LFR) fragment length is plotted on the y-axis and the N50 length of assembled haplotype contigs is plotted on the x-axis. Both values are in kb. f The number of cells-worth of genomic DNA was calculated based on assembled long fragment coverage and is plotted on the y-axis. The N50 length of the assembled haplotype contigs in kb is plotted on the x-axis