Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis.

Ryan L Davis Kishore Raj KumarClare PuttickChristina LiangKate E AhmadFabienne Edema-HildebrandJin-Sung ParkAndre E MinocheVelimir GayevskiyAmali C Mallawaarachchi John Chrisodoulou Deborah Schofield Marcel E Dinger Mark J Cowley Carolyn M Sue

Published in: Neurology (2022)

Comprehensive bigenomic sequencing accurately detects causative genetic variants in affected MD patients, simplifying diagnosis, enabling early treatment, and informing the risk of genetic transmission.

Keyphrases

end stage renal disease
ejection fraction
chronic kidney disease
newly diagnosed
oxidative stress
peritoneal dialysis
genome wide
single cell
patient reported outcomes
molecular dynamics
dna methylation
copy number
replacement therapy