@article {308324,
	title = {The phenotypic legacy of admixture between modern humans and Neandertals.},
	journal = {Science},
	volume = {351},
	year = {2016},
	note = {<p>http://science.sciencemag.org/content/351/6274/737</p>
},
	month = {2016 Feb 12},
	pages = {737-41},
	abstract = {<p>Many modern human genomes retain DNA inherited from interbreeding with archaic hominins, such as Neandertals, yet the influence of this admixture on human traits is largely unknown. We analyzed the contribution of common Neandertal variants to over 1000 electronic health record (EHR)-derived phenotypes in ~28,000 adults of European ancestry. We discovered and replicated associations of Neandertal alleles with neurological, psychiatric, immunological, and dermatological phenotypes. Neandertal alleles together explained a significant fraction of the variation in risk for depression and skin lesions resulting from sun exposure (actinic keratosis), and individual Neandertal alleles were significantly associated with specific human phenotypes, including hypercoagulation and tobacco use. Our results establish that archaic admixture influences disease risk in modern humans, provide hypotheses about the effects of hundreds of Neandertal haplotypes, and demonstrate the utility of EHR data in evolutionary analyses.</p>
},
	keywords = {Alleles, Animals, Depression, Disease, European Continental Ancestry Group, Evolution, Molecular, Genetic Variation, Genome, Human, Haplotypes, Humans, Keratosis, Actinic, Neanderthals, Phenotype},
	issn = {1095-9203},
	doi = {10.1126/science.aad2149},
	url = {http://www.ncbi.nlm.nih.gov/pubmed/26912863},
	author = {Simonti, Corinne N and Vernot, Benjamin and Bastarache, Lisa and Bottinger, Erwin and Carrell, David S and Chisholm, Rex L and Crosslin, David R and Hebbring, Scott J and Jarvik, Gail P and Kullo, Iftikhar J and Li, Rongling and Pathak, Jyotishman and Ritchie, Marylyn D and Roden, Dan M and Verma, Shefali S and Tromp, Gerard and Prato, Jeffrey D and Bush, William S and Akey, Joshua M and Denny, Joshua C and Capra, John A}
}
