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. 2023 Dec 9;11(12):3263. doi: 10.3390/biomedicines11123263

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© 2023 by the authors.

Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).

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OGM captured additional novel Tier 1 and 2 findings not detected by SOC methods. (a) Complex rearrangements that consist of a deletion of the GATA2 gene on 3q13.31 to 3q22.3 and multiple variants on 17p13 seen in the case of BNGOHM-0000149. The Circos plot and coverage profiles of chromosomes 3, 9, 12, and 17 are shown, all of which are associated with the 17p rearrangements. (b) The CREBBP-ZNF384 fusion (top) and its reciprocal translocation (bottom) captured by OGM in the case of BNGOHM-0000335. The first picture shows the conjoining of chr16 with chr12 such that CREBBP would be fused with ZNF384, and the second shows the reciprocal fusion point.

OGM captured additional novel Tier 1 and 2 findings not detected by SOC methods. (a) Complex rearrangements that consist of a deletion of the GATA2 gene on 3q13.31 to 3q22.3 and multiple variants on 17p13 seen in the case of BNGOHM-0000149. The Circos plot and coverage profiles of chromosomes 3, 9, 12, and 17 are shown, all of which are associated with the 17p rearrangements. (b) The CREBBP-ZNF384 fusion (top) and its reciprocal translocation (bottom) captured by OGM in the case of BNGOHM-0000335. The first picture shows the conjoining of chr16 with chr12 such that CREBBP would be fused with ZNF384, and the second shows the reciprocal fusion point.