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Article

Large-scale functional screen identifies genetic variants with splicing effects in modern and archaic humans.

Proceedings of the National Academy of Sciences of the United States of America - 23 May 2023

Rong Stephen, Neil Christopher R, Welch Anastasia, Duan Chaorui, Maguire Samantha, Meremikwu Ijeoma C, Meyerson Malcolm, Evans Ben J, Fairbrother William G

Abstract excerpt

Humans coexisted and interbred with other hominins which later became extinct. These archaic hominins are known to us only through fossil records and for two cases, genome sequences. Here, we engineer Neanderthal and Denisovan sequences into thousands of artificial genes to reconstruct the pre-mRNA processing patterns of these extinct populations. Of the 5,169 alleles tested in this massively parallel splicing...

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Identifiers

PMID: 37192163
DOI: 10.1073/pnas.2218308120
PMCID: PMC10214146

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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