Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.

María Isabel Álvarez-MoraAurora SánchezLaia Rodríguez-RevengaJordi CorominasRaquel RabionetSusana PuigIrene Madrigal

Published in: Orphanet journal of rare diseases (2022)

NGS is more powerful in identifying causative pathogenic variant than conventional algorithms based on chromosomal microarray as first-tier test. Our results reinforce the implementation of NGS as a first-test in genetic diagnosis of NDDs.

Keyphrases

copy number
machine learning
primary care
healthcare
genome wide
deep learning
dna methylation
circulating tumor
cell free