Genetics in Medicine Open

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

Schuy J, Sæther KB, Lisfeld J, ..., 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]