Quality assessments of the STR catalog. (A) Consistency of lobSTR calls with Mendelian inheritance. The blue line denotes the fraction of STR loci that followed Mendelian inheritance as a function of the read coverage threshold. The green line denotes the total number of calls in the three trios that passed the coverage threshold. (B) Concordance between lobSTR and capillary electrophoresis genotypes. The STR calls were taken from the highly polymorphic Marshfield panel. The dosage is reported as the sum of base pair differences from the hg19 reference. The area of each bubble is proportional to the number of calls of the dosage combination, and the broken line indicates the diagonal. (C) Comparison of heterozygosity rates for Marshfield panel STRs. The color denotes the length of the median allele of the STR (dark-short; light-long). (D) A comparison of allelic spectra obtained by lobSTR and capillary electrophoresis for a CODIS marker in European individuals. (Red) lobSTR; (black) capillary electrophoresis. nlobSTR and nCapillary indicate the number of alleles called in the respective call sets. (E) The reliable range of lobSTR allelic spectra. The figure presents the median deviation of the lobSTR calls from hg19 as function of the reference allele length (blue curve). Negative deviations indicate a potential preference toward ascertaining shorter alleles. STRs with reference alleles of up to ∼45 bp show very minimal deviations (yellow region) and are expected to display unbiased frequency spectra with the current read lengths. These STR loci comprise close to 90% of the total genotyped STRs in our catalog (red curve).
