Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approach.

Martin Krenn Matthias TomschikJ RathH CetinA GrisoldG ZulehnerIvan MilenkovicE StogmannA ZimprichT M StromT MeitingerMatias WagnerF Zimprich

Published in: European journal of neurology (2019)

Exome sequencing allows the detection of pathogenic variants missed by (narrowly) targeted gene panel approaches. Diagnostic reassessment after genetic testing further enhances the diagnostic outcomes for NMDs.

Keyphrases

copy number
single cell
genome wide
mental health
type diabetes
dna methylation
gene expression
label free
transcription factor
quantum dots