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Article

Whole-exome sequencing in an isolated population from the Dalmatian island of Vis.

European journal of human genetics : EJHG - 1 Oct 2016

Jeroncic Ana, Memari Yasin, Ritchie Graham Rs, Hendricks Audrey E, Kolb-Kokocinski Anja, Matchan Angela, Vitart Veronique, Hayward Caroline, Kolcic Ivana, Glodzik Dominik, Wright Alan F, Rudan Igor, Campbell Harry, Durbin Richard, Polašek Ozren, Zeggini Eleftheria, Boraska Perica Vesna

Abstract excerpt

We have whole-exome sequenced 176 individuals from the isolated population of the island of Vis in Croatia in order to describe exonic variation architecture. We found 290 577 single nucleotide variants (SNVs), 65% of which are singletons, low frequency or rare variants. A total of 25 430 (9%) SNVs are novel, previously not catalogued in NHLBI GO Exome Sequencing Project, UK10K-Generation Scotland, 1000Genomes...

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Identifiers

PMID: 27049301
DOI: 10.1038/ejhg.2016.23
PMCID: PMC4950961

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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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