Fig. 2.

Partial deletion of ATP7A exon 12 detected by tNGS.

Although the tNGS capture probes did not cover the introns for ATP7A (coding + non-coding exons are covered) the deep intronic side of the deletion shows sequencing read coverage (compare 1,084,455–6 (above) vs 1,084,454–7 (below). The RefSeq map of Exon 12 shows the location where the capture reads are lost and the dotted redline runs through the intronic region for which we now see sequencing reads the deep intronic sequence is now so close to the capture region that it is part of the same library fragment and thus sequenced.