Extended Data Fig. 4: Distribution of sSNVs in relation to gene position comparing AD and age-matched control neurons.
From: Somatic genomic changes in single Alzheimer’s disease neurons
a, sSNVs per neuron across different categories of genomic regions, based on position relative to gene structure. b, Proportional distribution of sSNVs in AD and control cases across different categories of genomic regions. Upstream and downstream were defined as <1 kb genomic regions from the transcription start and end sites, respectively. Each proportion is normalized by the expected proportion after controlling for trinucleotide context of phaseable regions. c, Proportional distribution of sSNVs relative to gene transcript length. The proportions for control or AD sSNVs were normalized by the expected proportion after controlling for trinucleotide context of phaseable regions. For each set, mean ± SEM is shown. For b, c, P value is shown for the observation showing statistically significant difference between AD and control (two-tailed t-test). AD neurons show a trend of excess over controls in sSNVs in upstream positions (not surviving Bonferroni correction). Data in this figure were obtained by MDA amplification of single genomes of neurons.
