Sharon N Mokua, Lorraine Ombogo, David Mathu, Prisca Otambo, Lilian Nyandieka, Stephen N Onteri, Schiller J Mbuka, James Kariuki, Ismail Ahmed, Violet Wanjihia, Joseph Mutai, Zipporah Bukania
"For a man to go to hospital, then that would be his last option": A qualitative study exploring men's experiences, perceptions and healthcare needs in the implementation of Universal Health Coverage in Kenya
PLOS global public health
although diseasecausal genetic variants found within silencer sequences still lack comprehensive analysis association silencers diseases profiled gwas variants 28 million candidate silencers across 97 human samples derived diverse panel tissues developmental time points using deep learning models show candidate silencers exhibit strong enrichment diseaseassociated variants several diseases display much stronger association silencer variants enhancer variants close 52 candidate silencers cluster forming silencerrich loci loci parkinsonsdiseasehallmark genes trim31 mal associated snps densely populate clustered candidate silencers rather enhancers displaying overall 2fold enrichment silencers versus enhancers disruption apoptosis neuronal cells associated schizophrenia bipolar disorder largely attributed variants within candidate silencers model permits mechanistic explanation causative snp effects identifying altered binding tissuespecific repressors activators validated 70 directional concordance using snpselex narrowing focus analysis individual silencer variants experimental data confirms role rs62055708 snp parkinsons disease rs2535629 schizophrenia rs6207121 type 1 diabetes summary results indicate advances deep learning models discovery diseasecausal variants within candidate silencers effectively double number functionally characterized gwas variants provides basis explaining mechanisms action designing novel diagnostics therapeutics