Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites.

Christine C BruelsChengcheng LiTonatiuh MendozaJamillah KhanHemakumar M ReddyElicia A EstrellaPartha S GhoshBasil T DarrasHart G W LidovChristina A PacakLouis M KunkelFrancois P Modave Isabelle Draper Peter B Kang

Published in: Molecular genetics & genomic medicine (2019)

This study confirms the potential of novel in silico algorithms to detect cryptic mutations in existing NGS data; expands the phenotypic spectrum of ATP2A1 mutations beyond classic Brody myopathy; and suggests that genetic testing of ATP2A1 should be considered in patients with clinical myotonia.

Keyphrases

electronic health record
molecular docking
big data
machine learning
late onset
deep learning
copy number
data analysis
dna methylation
climate change
early onset
human health