Advances in sequencing technologies have transformed human genetics and accelerated disease gene discovery. Yet a causal mutation remains to be identified for many families with an inherited disease. Incomplete penetrance, genetic heterogeneity, and limited family history can complicate the binary classification of fam...
L. Henden, Sandrine Chan Moi Fat, Andrew N. Smith et al.· Brain : a journal of neurolo...· 0 citations
Amyotrophic lateral sclerosis (ALS) shows well-established sex differences in incidence, age at onset and progression, but their biological basis is unclear. We hypothesised that the DNA methylation changes associated with ALS differ between the sexes, which would point to sex-specific disease processes. To test this,...
Young Jun Kim, A. Iacoangeli, R. Zwamborn et al.· bioRxiv· 0 citations
Age-related changes in the mean or variance of DNA methylation (DNAm) at individual CpG sites are well established. However, CpGs that share biological functions often exhibit coordinated regulation. Here, we analysed whole-blood DNAm data from over 7,500 individuals and identified modules of co-methylated CpGs that ei...
E. Cheruiyot, A. Hatton, Daniel L. McCartney et al.· bioRxiv· 0 citations
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