Association of low-frequency and rare coding variants with information processing speed
Sign Up to like & getrecommendations! Published in 2021 at "Translational Psychiatry"
DOI: 10.1038/s41398-021-01736-6
Abstract: Measures of information processing speed vary between individuals and decline with age. Studies of aging twins suggest heritability may be as high as 67%. The Illumina HumanExome Bead Chip genotyping array was used to examine… read more here.
Keywords: coding variants; processing speed; information processing; rare coding ... See more keywords
AB0015 The effect of rare coding variants on response of tnf inhibitors treatment in rheumatoid arthritis
Sign Up to like & getrecommendations! Published in 2018 at "Annals of the Rheumatic Diseases"
DOI: 10.1136/annrheumdis-2018-eular.6862
Abstract: Background Although pharmacogenetic studies of TNF inhibitors (TNFi) response presented the estimates of high heritability, only few loci with suggestive weak common association as biomarkers for TNFi response have been identified. Objectives We aimed to… read more here.
Keywords: coding variants; response; rare coding; association ... See more keywords
Identification of Alzheimer's disease-associated rare coding variants in the ECE2 gene.
Sign Up to like & getrecommendations! Published in 2020 at "JCI insight"
DOI: 10.1172/jci.insight.135119
Abstract: Accumulation of amyloid β protein (Aβ) due to increased generation and/or impaired degradation plays an important role in Alzheimer's disease (AD) pathogenesis. In this report, we describe the identification of rare coding mutations in the… read more here.
Keywords: alzheimer disease; rare coding; ece2; gene ... See more keywords