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 1 Publication

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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

Publications	Citations
Multi-omics analysis detail a submicroscopic inv(15)(q14q15) generating fusion transcripts and MEIS2 and NUSAP1 haploinsufficiency. Ek M, Kvarnung M, Pettersson M, Soller MJ, Anderlid BM, Thonberg H, Eisfeldt J, Lindstrand A. Sci Rep 14: 2024 30343	0