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This is evident in overall\nbody alterations such as average height and brain size. Although we can\nappreciate the uniqueness of our species in many aspects, molecular variations\nthat drive such changes are far from being fully known and explained.\nComparative genomics is able to determine variations in genomic sequence that\nmay provide functional information to better understand species-specific\nadaptations. A large number of human-specific genomic variations have been\nreported but no currently available dataset comprises all of these, a problem\nwhich contributes to hinder progress in the field.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Results<\/jats:title>\n<jats:p>Here we critically update high confidence human-specific genomic\nvariants that mostly associate with protein-coding regions and find 856 related\ngenes. Events that create such human-specificity are mainly gene duplications,\nthe emergence of novel gene regions and sequence and structural alterations.\nFunctional analysis of these human-specific genes identifies adaptations to\nbrain, immune and metabolic systems to be highly involved. We further show that\nmany of these genes may be functionally associated with neural activity and\ngenerating the expanded human cortex in dynamic spatial and temporal\ncontexts.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Conclusions<\/jats:title>\n<jats:p>This comprehensive study contributes to the current knowledge by\nconsiderably updating the number of human-specific genes following a critical\nbibliographic survey. Human-specific genes were functionally assessed for the\nfirst time to such extent, thus providing unique information. Our results are\nconsistent with environmental changes, such as immune challenges and alterations\nin diet, as well as neural sophistication, as significant contributors to recent\nhuman evolution.<\/jats:p>\n<\/jats:sec>","DOI":"10.1186\/s12859-019-2886-2","type":"journal-article","created":{"date-parts":[[2019,11,22]],"date-time":"2019-11-22T10:02:38Z","timestamp":1574416958000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Genes with human-specific features are primarily involved with\nbrain, immune and metabolic evolution"],"prefix":"10.1186","volume":"20","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4103-8008","authenticated-orcid":false,"given":"Main\u00e1","family":"Bitar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefanie","family":"Kuiper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth A.","family":"O\u2019Brien","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guy","family":"Barry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,11,22]]},"reference":[{"key":"2886_CR1","doi-asserted-by":"crossref","unstructured":"Tattersall I. 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