FIGURE 9.

Maternal uniparental disomy, UPD(20)mat (Sample_15). The alignment view of the confirmatory long reads WGS in proband and original short reads familial trio WGS. Order top to bottom: long reads confirmatory WGS in proband, short reads initial WGS in father, mother, proband. Each thick gray horizontal line represents a separate read. String of letters below the panels indicate reference nucleotide sequence, and colored nucleotides over the read sequences stand for the nucleotides not matching the reference. (A–C) Examples of small sequence changes used for UPD confirmation. Variants are homozygous alternate in father and reference in mother. Coordinates of the variants on hg38 are shown under each alignment.