Fig. 2: FAME1 repeat expansion analysis with ExpansionHunter, exSTRa and STRetch. | European Journal of Human Genetics

Fig. 2: FAME1 repeat expansion analysis with ExpansionHunter, exSTRa and STRetch.

From: Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families

Fig. 2

Repeat expansion analysis output for the TTTTA repeat expansion (a–c) and the TTTCA repeat insertion (d–f) in SAMD12 associated with FAME1. Two affected individuals (A-II-2, A-III-2) and one unaffected individual (A-III-1) from Family A and two affected individuals (B-II-5, B-II-7) from Family B are shown in colour, while 69 control individuals without FAME are shown in light grey for comparison. a and d show smaller and larger allele sizes predicted by ExpansionHunter with a small amount of noise jitter to distinguish samples that share the same genotype. b and e show empirical cumulative distribution functions (CDFs) of the number of bases matching the repeat motif created from the exSTRa scores. c and f show histograms of negative log base-10 transformed false discovery rate adjusted p values returned by STRetch (padj). The red dashed vertical line represents padj = 0.05. TREDPARSE and GangSTR results are shown in Fig. S1.

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