Fig. 6
From: Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads
Alignments of DNA reads (vertical) to the reference human genome (horizontal). Diagonal lines indicate alignments, of the same strands (red) and opposite strands (blue). The vertical stripes indicate repeat annotations in the reference genome: tandem repeats (purple) and transposable elements (pink). a Six reads from a BAFME patient that cover the disease-causing SAMD12 AAAAT repeat locus. b Close-ups of three reads with ~ 5 k expansions. c Two examples of chimeric human reads (rel3) with expanded CAG repeats at the ATXN7 disease locus