Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps.
Bilgrav Saether K, Eisfeldt J, Bengtsson JD, Lun MY, Grochowski CM, Mahmoud M, Chao HT, Rosenfeld JA, Liu P, Ek M, Schuy J, Ameur A, Dai H; Undiagnosed Diseases Network; Hwang JP, Sedlazeck FJ, Bi W, Marom R, Wincent J, Nordgren A, Carvalho CMB, Lindstrand A.
Bilgrav Saether K, et al. Among authors: carvalho cmb.
Genome Res. 2024 Nov 1. doi: 10.1101/gr.279346.124. Online ahead of print.
Genome Res. 2024.
PMID: 39486878
Free article.