Long-read nanopore sequencing reveals novel common genetic structural variants in Prader-Willi syndrome and associated psychosis
Maximilian Deest, Björn Brändl, Christian Rohrandt, Christian Karl Eberlein, Stefan Bleich, Franz-Josef Müller, Helge Frieling
This study uses long-read sequencing to identify novel structural variants in Prader-Willi syndrome patients, linking them to psychiatric traits and challenging current genetic hypotheses.
medRxiv · Jul 18, 2022 · PreprintGenetic & Genomic Medicine