A combination of long and short read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements

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Schuy J, Sæther KB, Lisfeld J, Ek M, Grochowski CM, Lun MY, Hastie A, Rudolph S, Fuchs S, Neveling K, Hempel M, Hoischen A, Pettersson M, Carvalho CMB, Eisfeldt J, Lindstrand A

Genetics in Medicine Open - (-) 101863 [2024-06-00; online 2024-06-00]

NGI Long read [Service]

NGI Uppsala (Uppsala Genome Center) [Service]

National Genomics Infrastructure [Service]

DOI 10.1016/j.gimo.2024.101863

Crossref 10.1016/j.gimo.2024.101863