Article

Human-lineage-specific genomic elements: relevance to neurodegenerative disease and <i>APOE</i> transcript usage

2020-04-18

Abstract excerpt

<h4>ABSTRACT</h4> 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 s...

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Literature Corpus work: 57560600-e346-55b4-90c9-7b936ec7b8ac
DOI: 10.1101/2020.04.17.046441

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