Identification of genes associated with dissociation of cognitive performance and neuropathological burden: Multistep analysis of genetic, epigenetic, and transcriptional data.

Charles C WhiteHyun-Sik YangLei YuLori B ChibnikRobert J DaweJingyun YangHans-Ulrich KleinDaniel Felsky Alfredo Ramos-Miguel Konstantinos ArfanakisWilliam G HonerReisa A SperlingJulie A SchneiderDavid A BennettPhilip L De Jager

Published in: PLoS medicine (2017)

Through a multistep analysis of cognitive, neuropathological, genomic, epigenomic, and transcriptomic data, we identified ENC1 and UNC5C as genes with convergent genetic, epigenetic, and transcriptomic evidence supporting a potential role in the dissociation of cognition and neuropathology in an aging population, and we expanded our understanding of the TMEM106B haplotype that is protective against TDP-43 proteinopathy.

Keyphrases

genome wide
dna methylation
gene expression
copy number
electronic health record
single cell
big data
rna seq
bioinformatics analysis
electron transfer
transcription factor
mild cognitive impairment
white matter
data analysis
deep learning
heat shock protein