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. Author manuscript; available in PMC: 2018 Mar 11.
Published in final edited form as: Nat Genet. 2017 Sep 11;49(10):1495–1501. doi: 10.1038/ng.3952

Figure 4. Constraint scores can be used for STR prioritization.

Figure 4

(a) Z-scores for example loci. Black indicates CODIS forensics markers. Blue indicates known pathogenic STRs. For each STR, the CODIS marker or gene name is given and the chromosomal location (GRCh37) is indicated in parentheses. (b) Example distributions of estimated vs. expected mutation rates. The left panel shows a CODIS STR (D19S433), a presumably neutral STR. The middle panel shows a highly constrained polyglutamine repeat in RUNX2 for which a mild expansion is implicated in cleidocranial dysplasia, an early onset disorder. The right panel shows a polyglutamine repeat in ATXN7, implicated in spinocerebellar ataxia type 7, a late onset disorder and accordingly not highly constrained.