Article
Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage.
Nature communications - 6 Apr 2021
Chen Zhongbo, Zhang David, Reynolds Regina H, Gustavsson Emil K, García-Ruiz Sonia, D'Sa Karishma, Fairbrother-Browne Aine, Vandrovcova Jana, Hardy John, Houlden Henry, Gagliano Taliun Sarah A, Botía Juan, Ryten Mina
Abstract excerpt
Knowledge of genomic features specific to the human lineage may provide insights into brain-related diseases. We leverage high-depth whole genome sequencing data to generate a combined annotation identifying regions simultaneously depleted for genetic variation (constrained regions) and poorly conserved across primates. We propose that these constrained, non-conserved regions (CNCRs) have been subject to...
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