Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders.

Adeline VanderverGeneviève BernardGuy HelmanOmar SherbiniRyan BoeckJeffrey CohnAbigail CollinsScott DemarestKatherine DobbinsLisa EmrickJamie L FraserDiane Masser-FryeJean HaywardSwati KarmarkarStephanie KellerSamuel MirropWendy MitchellSheel PathakElliott SherrKeith van HarenErica WatersJenny L WilsonLeah ZhorneRaphael SchiffmannMarjo S van der KnaapAmy PizzinoHolly DubbsJustine ShultsCas SimonsRyan J Taftnull null

Published in: Annals of neurology (2020)

In this study, first-line GS provided earlier and greater diagnostic efficacy in white matter disorders. We provide an evidence-based diagnostic testing algorithm to enable appropriate clinical GS utilization in this population. ANN NEUROL 2020;88:264-273.

Keyphrases

white matter
multiple sclerosis
machine learning
single cell
genome wide
young adults
childhood cancer