Targeted versus untargeted omics - the CAFSA story.

Maria Del Mar AmadorBenoit ColschFoudil LamariClaude JardelFarid IchouAgnès RastetterFrédéric SedelFabien JourdanClément FrainayRonald A WeversEmmanuel RozeChristel DepienneChristophe JunotFanny Mochel

Published in: Journal of inherited metabolic disease (2018)

Our genetic and metabolomics analyses suggest that CAFSA is a heterogeneous entity related to mitochondrial DNA alterations either through POLG mutations or a mechanism similar to what is observed in Kearns-Sayre syndrome.

Keyphrases

mitochondrial dna
copy number
mass spectrometry
genome wide
liquid chromatography
cancer therapy
single cell
dna methylation
case report
high resolution mass spectrometry
gas chromatography mass spectrometry
gene expression
drug delivery