Targeted copy number variant identification across the neurodegenerative disease spectrum.

Allison Ann DilliottKristina K ZhangJian WangAgessandro AbrahaoMalcolm A BinnsSandra E BlackMichael BorrieDar DowlatshahiElizabeth FingerCorinne E FischerAndrew FrankMorris FreedmanDavid GrimesAyman HassanMandar JogSanjeev KumarAnthony E LangJennifer MandziaMario MasellisStephen H PasternakBruce G PollockTarek K RajjiEkaterina RogaevaDemetrios J SahlasGustavo SaposnikChristine SatoDallas SeitzChristen ShoesmithThomas D L SteevesRichard H SwartzBrian TanDavid F Tang-WaiMaria C TartagliaJohn TurnbullLorne Zinmannull nullRobert A Hegele

Published in: Molecular genetics & genomic medicine (2022)

The identification of the CNVs suggests a portion of the apparent missing heritability of the phenotypes may be due to these structural variants, and their assessment is imperative for a thorough understanding of the genetic spectrum of neurodegeneration.

Keyphrases

copy number
mitochondrial dna
genome wide
dna methylation
bioinformatics analysis
diffusion weighted imaging
gene expression
magnetic resonance imaging
clinical evaluation