Long-read sequencing resolves a complex structural variant in PRKN Parkinson's disease.

Kensuke Daida Manabu FunayamaKimberley J BillingsleyLaksh MalikAbigail Miano-BurkhardtHampton L LeonardMary B MakariousHirotaka IwakiJinhui Ding Raphael J GibbsMayu IshiguroHiroyo YoshinoKotaro OgakiGenko OyamaKenya NishiokaRisa NonakaWado AkamatsuCornelis BlauwendraatNobutaka Hattori

Published in: medRxiv : the preprint server for health sciences (2023)

. This study highlights the importance of using long-read whole genome sequencing for structural variant analysis in unresolved young-onset PD cases.

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