@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}
}
@article {7719,
	title = {The Kalash genetic isolate: ancient divergence, drift, and selection.},
	journal = {Am J Hum Genet},
	volume = {96},
	year = {2015},
	month = {2015 May 7},
	pages = {775-83},
	abstract = {<p>The Kalash represent an enigmatic isolated population of Indo-European speakers who have been living for centuries in the Hindu Kush mountain ranges of present-day Pakistan. Previous Y chromosome and mitochondrial DNA markers provided no support for their claimed Greek descent following Alexander III of Macedon{\textquoteright}s invasion of this region, and analysis of autosomal loci provided evidence of a strong genetic bottleneck. To understand their origins and demography further, we genotyped 23 unrelated Kalash samples on the Illumina HumanOmni2.5M-8 BeadChip and sequenced one male individual at high coverage on an Illumina HiSeq 2000. Comparison with published data from ancient hunter-gatherers and European farmers showed that the Kalash share genetic drift with the Paleolithic Siberian hunter-gatherers and might represent an extremely drifted ancient northern Eurasian population that also contributed to European and Near Eastern ancestry. Since the split from other South Asian populations, the Kalash have maintained a low long-term effective population size (2,319-2,603) and experienced no detectable gene flow from their geographic neighbors in Pakistan or from other extant Eurasian populations. The mean time of divergence between the Kalash and other populations currently residing in this region was estimated to be 11,800 (95\% confidence interval = 10,600-12,600) years ago, and thus they represent present-day descendants of some of the earliest migrants into the Indian sub-continent from West Asia.</p>},
	keywords = {Asia, Asian Continental Ancestry Group, Chromosomes, Human, Y, Demography, DNA, Mitochondrial, European Continental Ancestry Group, Genetic Drift, Genetics, Population, Haplotypes, History, Ancient, Humans, Male, Pakistan, Phylogeny},
	issn = {1537-6605},
	doi = {10.1016/j.ajhg.2015.03.012},
	author = {Ayub, Qasim and Mezzavilla, Massimo and Pagani, Luca and Haber, Marc and Mohyuddin, Aisha and Khaliq, Shagufta and Mehdi, Syed Qasim and Tyler-Smith, Chris}
}
