A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings.

Fangning GuAnchi WuM Grace GordonLukas VlahosShane MacnamaraElizabeth BurkeMay C MalicdanDavid R AdamsCynthia J TifftCamilo ToroWilliam A GahlThomas C Markello

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)

Using Mendelian and non-Mendelian models, this agnostic exome analysis shows a difference between a small group of probands and their unaffected siblings. This workflow produces candidate lists small enough to pursue with laboratory validation.

Keyphrases

copy number
intellectual disability
machine learning
deep learning
high throughput
electronic health record
autism spectrum disorder
dna methylation
single cell
data analysis