Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads.
Quinodoz M, Kaminska K, Cancellieri F, Han JH, Peter VG, Celik E, Janeschitz-Kriegl L, Schärer N, Hauenstein D, György B, Calzetti G, Hahaut V, Custódio S, Sousa AC, Wada Y, Murakami Y, Fernández AA, Hernández CR, Minguez P, Ayuso C, Nishiguchi KM, Santos C, Santos LC, Tran VH, Vaclavik V, Scholl HPN, Rivolta C.
Quinodoz M, et al. Among authors: tran vh.
Am J Hum Genet. 2024 Mar 19:S0002-9297(24)00074-0. doi: 10.1016/j.ajhg.2024.03.001. Online ahead of print.
Am J Hum Genet. 2024.
PMID: 38531366