D'Hert S

Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR.

De Coster W, Höijer I, Bruggeman I, ..., Ameur A, Rademakers R

Genome Res. 34 (11) 2074-2080 [2024-11-20; online 2024-11-20]

Clinical Genomics Uppsala [Technology development] NGI Long read [Technology development] NGI Uppsala (Uppsala Genome Center) [Technology development] National Genomics Infrastructure [Technology development]