Targeted copy number variant identification across the neurodegenerative disease spectrum.
Allison A 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 HegelePublished 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.