Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage

Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage
Nat Commun. 2021 Apr 6;12(1):2076. doi: 10.1038/s41467-021-22262-5.ABSTRACTKnowledge 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 human-specific ... read more
Source: PubMedPublished on 2021-04-07By Zhongbo Chen