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

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 conse...

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Pubblicato in:Nat Commun
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group UK 2021
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8024253/
https://ncbi.nlm.nih.gov/pubmed/33824317
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-021-22262-5
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