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Article

Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits.

Nature communications - 26 May 2017

Southam Lorraine, Gilly Arthur, Süveges Dániel, Farmaki Aliki-Eleni, Schwartzentruber Jeremy, Tachmazidou Ioanna, Matchan Angela, Rayner Nigel W, Tsafantakis Emmanouil, Karaleftheri Maria, Xue Yali, Dedoussis George, Zeggini Eleftheria

Abstract excerpt

Next-generation association studies can be empowered by sequence-based imputation and by studying founder populations. Here we report ∼9.5 million variants from whole-genome sequencing (WGS) of a Cretan-isolated population, and show enrichment of rare and low-frequency variants with predicted functional consequences. We use a WGS-based imputation approach utilizing 10,422 reference haplotypes to perform...

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PMID: 28548082
DOI: 10.1038/ncomms15606
PMCID: PMC5458552

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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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