Frequency of Variants in Mendelian Alzheimer's Disease Genes within the Alzheimer's Disease Sequencing Project (ADSP).

Dongyu WangAlexandra ScaliciYanbing WangHonghuang LinAchilleas PitsillidesNancy Heard-CostaCruchaga CarlosEllen ZiegemeierJoshua C BisMyriam FornageEric BoerwinklePhilip Lawrence De JagerEllen WijsmanJosée DupuisAlan E RentonSudha SeshadriAlison Mary Goatenull nullAnita L DeStefanoGina M Peloso

Published in: medRxiv : the preprint server for health sciences (2023)

The ADSP data permit further characterization of previously-reported AD clinically-relevant variants. A small proportion of individuals in the ADSP are carriers of a previously-reported clinically-relevant variant allele for AD and these participants have significantly earlier age of AD onset compared to non-carriers. Furthermore, we observed additional LoF variants that potentially contribute to clinical presentation of AD.

Keyphrases

copy number
cognitive decline
genome wide
electronic health record
gene expression
big data
transcription factor
bioinformatics analysis
data analysis