@article {10514,
	title = {Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations.},
	journal = {Nat Commun},
	volume = {8},
	year = {2017},
	month = {2017 06 23},
	pages = {15927},
	abstract = {<p>The genetic features of isolated populations can boost power in complex-trait association studies, and an in-depth understanding of how their genetic variation has been shaped by their demographic history can help leverage these advantageous characteristics. Here, we perform a comprehensive investigation using 3,059 newly generated low-depth whole-genome sequences from eight European isolates and two matched general populations, together with published data from the 1000 Genomes Project and UK10K. Sequencing data give deeper and richer insights into population demography and genetic characteristics than genotype-chip data, distinguishing related populations more effectively and allowing their functional variants to be studied more fully. We demonstrate relaxation of purifying selection in the isolates, leading to enrichment of rare and low-frequency functional variants, using novel statistics, DVxy and SVxy. We also develop an isolation-index (Isx) that predicts the overall level of such key genetic characteristics and can thus help guide population choice in future complex-trait association studies.</p>},
	keywords = {European Continental Ancestry Group, Gene Frequency, Genetic Variation, Genetics, Population, Genome, Human, Humans, Polymorphism, Single Nucleotide, Whole Genome Sequencing},
	issn = {2041-1723},
	doi = {10.1038/ncomms15927},
	author = {Xue, Yali and Mezzavilla, Massimo and Haber, Marc and McCarthy, Shane and Chen, Yuan and Narasimhan, Vagheesh and Gilly, Arthur and Ayub, Qasim and Colonna, Vincenza and Southam, Lorraine and Finan, Christopher and Massaia, Andrea and Chheda, Himanshu and Palta, Priit and Ritchie, Graham and Asimit, Jennifer and Dedoussis, George and Gasparini, Paolo and Palotie, Aarno and Ripatti, Samuli and Soranzo, Nicole and Toniolo, Daniela and Wilson, James F and Durbin, Richard and Tyler-Smith, Chris and Zeggini, Eleftheria}
}
