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Article

The genetic architecture and evolution of the human skeletal form.

Science (New York, N.Y.) - 21 Jul 2023

Kun Eucharist, Javan Emily M, Smith Olivia, Gulamali Faris, de la Fuente Javier, Flynn Brianna I, Vajrala Kushal, Trutner Zoe, Jayakumar Prakash, Tucker-Drob Elliot M, Sohail Mashaal, Singh Tarjinder, Narasimhan Vagheesh M

Abstract excerpt

The human skeletal form underlies bipedalism, but the genetic basis of skeletal proportions (SPs) is not well characterized. We applied deep-learning models to 31,221 x-rays from the UK Biobank to extract a comprehensive set of SPs, which were associated with 145 independent loci genome-wide. Structural equation modeling suggested that limb proportions exhibited strong genetic sharing but were independent of...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Polymorphism, Single Nucleotide

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Identifiers

PMID: 37471560
DOI: 10.1126/science.adf8009
PMCID: PMC11075689

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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