Adaptive long-read and transcriptome sequencing detail a submicroscopic inv(15)(q14q15), generating two fusion transcripts and MEIS2 and NUSAP1 haploinsufficiency

Study an inversion affecting MEIS2 using ONT adaptive sequencing.

1 Dataset

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Dataset ID	Description	Technology	Samples
EGAD50000000893	DNA was extracted from whole blood, and sequenced on a Promethion flow cell. The target region covered chr15:22874354-55370932 (Grch38). The resulting data was aligned to Grch38 using minimap2.	PromethION	1