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

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4950961/
https://www.ncbi.nlm.nih.gov/pubmed/27049301
http://dx.doi.org/10.1038/ejhg.2016.23