… underlying tandem repeat expansion. The mechanism by which tandem repeats expand has
… To align the two consensus alleles from each sample after de-multiplexing, we first trimmed …

… denote tandem repeats of short (≤ 9bp) or long (> 9bp) repeated … Tandem repeats can
be mutational hotspots due to their … to make allele calls for 6161–6632 tandem repeats (57.3–61.7…

… For the recessive STR loci EPM1 and FRDA, we sampled two expanded alleles for
individuals with the diseases. To allow for STR loci assessment on the X chromosome (FRAXA, …

… finding tandem repeats which works without the need to specify either the pattern or pattern
size. we model tandem repeats … Recent studies of allele diversity at tandem repeat loci have …

… have been associated with longer unit tandem repeats. For example, variations in a 40 …
disease associated with tandem repeat polymorphism is type 1 diabetes which is linked to allelic …

… allele lengths are greater than twice the longest parental … Tandem Repeats are a common
etiology of de novo disease-… , new pathogenic associations and disease mechanisms can be …

… However, we observed 196 TRs at which more than 95% of observed alleles differed from
the reference by more than 2 repeats (Supplementary Data 10). Many of these consisted of …

… The results of this study indicate that the 6 and 9.3 TH01 alleles are associated with a
decrease in the hemodynamic responses to stress, offering a protective effect to individuals …

… tandem repeats (STRs). STRs are short DNA segments, widely distributed in the human
genome and mainly found outside known tandem repeats. … , all possible SNP alleles are used in …

… method for defining allele thresholds in rare STRs. Excluding C9orf72 repeat expansions, …
We adjusted ExpansionHunter ATXN1 allele lengths by subtracting one repeat unit from the …