Long-Read Sequencing Resolves a Complex Structural Variant in PRKN Parkinson's Disease.

Kensuke Daida Manabu Funayama Kimberley J BillingsleyLaksh MalikAbigail Miano-BurkhardtHampton L LeonardMary B Makarious Hirotaka IwakiJinhui DingJ Raphael GibbsMayu IshiguroHiroyo YoshinoKotaro OgakiGenko OyamaKenya NishiokaRisa NonakaWado AkamatsuCornelis BlauwendraatNobutaka Hattori

Published in: Movement disorders : official journal of the Movement Disorder Society (2023)

This is the first report describing a large 7 Mb inversion involving breakpoints outside of PRKN. This study highlights the importance of using long-read sequencing for structural variant analysis in unresolved young-onset PD cases. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.

Keyphrases

single cell
single molecule
healthcare
randomized controlled trial
middle aged
emergency department
computed tomography
contrast enhanced
meta analyses