Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders
C. Lowther, M. M. Mehrjouy, R. L. Collins, M. C. Bak, O. Dudchenko, H. Brand, Z. Dong, M. B. Rasmussen, L. Nazaryan-Petersen, H. Gu, D. Weisz, A. S. Fjorder, Y. Mang, A. Lind-Thomsen, J. M. M. Mendez, , K. Ounap
The paper analyzes balanced chromosomal rearrangements in developmental disorders, finding noncoding variants disrupt TADs and contribute to pathogenic long-range positional effects.
medRxiv · Feb 15, 2022 · PreprintGenetic & Genomic Medicine