The diagnostic efficacy of exome data analysis using fixed neurodevelopmental gene lists: Implications for prenatal setting.

Rivka Sukenik HalevyNoa Ruhrman-ShaharNaama OrensteinClaudia Gonzaga-JaureguiAlan R ShuldinerNurit MagalOfir HagariNoy AzulayGabriel A LidzbarskyLily BazakLina Basel-Salmon

Published in: Prenatal diagnosis (2021)

A significant number of genes related to neurocognitive phenotypes are not included in some of the lists used for prenatal ES data interpretation. These are not only genes related to recently discovered disorders, but also genes with well-established gene-phenotype.

Keyphrases

genome wide identification
genome wide
copy number
genome wide analysis
pregnant women
transcription factor
dna methylation
electronic health record
bioinformatics analysis
big data
bipolar disorder
gene expression
artificial intelligence
congenital heart disease