Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy.
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ABSTRACT:
SUBMITTER: Bruels CC
PROVIDER: S-EPMC9380148 | biostudies-literature | 2022 Aug
REPOSITORIES: biostudies-literature
Publications
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy.
Bruels Christine C CC Littel Hannah R HR Daugherty Audrey L AL Stafki Seth S Estrella Elicia A EA McGaughy Emily S ES Truong Don D Badalamenti Jonathan P JP Pais Lynn L Ganesh Vijay S VS O'Donnell-Luria Anne A Stalker Heather J HJ Wang Yang Y Collins Christin C Behlmann Andrea A Lemmers Richard J L F RJLF van der Maarel Silvère M SM Laine Regina R Ghosh Partha S PS Darras Basil T BT Zingariello Carla D CD Pacak Christina A CA Kunkel Louis M LM Kang Peter B PB
Annals of clinical and translational neurology 20220623 8
Many individuals with muscular dystrophies remain genetically undiagnosed despite clinical diagnostic testing, including exome sequencing. Some may harbor previously undetected structural variants (SVs) or cryptic splice sites. We enrolled 10 unrelated families: nine had muscular dystrophy but lacked complete genetic diagnoses and one had an asymptomatic DMD duplication. Nanopore genomic long-read sequencing identified previously undetected pathogenic variants in four individuals: an SV in DMD, ...[more]
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