Editing Ötzi (section)

===Genetic analysis===
Ötzi's full genome was first sequenced in 2012;<ref name="Keller-2012">{{Cite journal |last=Keller |first=Andreas |last2=Graefen |first2=Angela |last3=Ball |first3=Markus |last4=Matzas |first4=Mark |last5=Boisguerin |first5=Valesca |last6=Maixner |first6=Frank |last7=Leidinger |first7=Petra |last8=Backes |first8=Christina |last9=Khairat |first9=Rabab |last10=Forster |first10=Michael |last11=Stade |first11=Björn |last12=Franke |first12=Andre |last13=Mayer |first13=Jens |last14=Spangler |first14=Jessica |last15=McLaughlin |first15=Stephen |display-authors=2 |date=2012-02-28 |title=New insights into the Tyrolean Iceman's origin and phenotype as inferred by whole-genome sequencing |journal=Nature Communications |volume=3 |page=698 |bibcode=2012NatCo...3..698K |doi=10.1038/ncomms1701 |pmid=22426219 |doi-access=free |last16=Shah |first16=Minita |last17=Lee |first17=Clarence |last18=Harkins |first18=Timothy T. |last19=Sartori |first19=Alexander |last20=Moreno-Estrada |first20=Andres |last21=Henn |first21=Brenna |last22=Sikora |first22=Martin |last23=Semino |first23=Ornella |last24=Chiaroni |first24=Jacques |last25=Rootsi |first25=Siiri |last26=Myres |first26=Natalie M. |last27=Cabrera |first27=Vicente M. |last28=Underhill |first28=Peter A. |last29=Bustamante |first29=Carlos D. |last30=Vigl |first30=Eduard Egarter}}</ref> a new, high-coverage genome with much less modern human contamination was published in 2023.<ref>{{Cite journal |last=Wang |first=Ke |display-authors=etal |date=2023 |title=High-coverage genome of the Tyrolean Iceman reveals unusually high Anatolian farmer ancestry |journal=Cell Genomics |volume=3 |issue=9 |page=100377 |doi=10.1016/j.xgen.2023.100377 |pmc=10504632 |pmid=37719142 |doi-access=free}}</ref>

According to the 2012 study, the [[Y chromosome]] DNA of Ötzi belongs to a [[Haplogroup G (Y-DNA)|subclade of G]] defined by the SNPs M201, P287, P15, L223 and L91 (G-L91, ISOGG G2a2b, former "G2a4"). He was not typed for any of the subclades downstreaming from G-L91; however, an analysis of his [[Binary Alignment Map]] file revealed that he belongs to the L166 and FGC5672 subclades below L91.<ref>{{Cite web |title=G-FGC5672 YTree |url=https://www.yfull.com/tree/G-FGC5672/}}</ref> G-L91 is now mostly found in South [[Corsica]].<ref>{{Cite journal |last=Di Cristofaro |first=Julie |last2=Mazières |first2=Stéphane |last3=Tous |first3=Audrey |last4=Di Gaetano |first4=Cornelia |last5=Lin |first5=Alice A. |last6=Nebbia |first6=Paul |last7=Piazza |first7=Alberto |last8=King |first8=Roy J. |last9=Underhill |first9=Peter |last10=Chiaroni |first10=Jacques |date=2018-08-01 |title=Prehistoric migrations through the Mediterranean basin shaped Corsican Y-chromosome diversity |journal=PLOS ONE |volume=13 |issue=8 |pages=e0200641 |bibcode=2018PLoSO..1300641D |doi=10.1371/journal.pone.0200641 |issn=1932-6203 |pmc=6070208 |pmid=30067762 |doi-access=free}}</ref> Analysis of his mitochondrial DNA showed that Ötzi belongs to the K1 subclade, but cannot be categorized into any of the three modern branches of that subclade (K1a, K1b, or K1c). The new subclade has provisionally been named ''K1ö'' for ''Ötzi''.<ref>{{Cite journal |last=Ermini |first=Luca |last2=Olivieri |first2=Cristina |last3=Rizzi |first3=Ermanno |last4=Corti |first4=Giorgio |last5=Bonnal |first5=Raoul |last6=Soares |first6=Pedro |last7=Luciani |first7=Stefania |last8=Marota |first8=Isolina |last9=De Bellis |first9=Gianluca |last10=Richards |first10=Martin B. |last11=Rollo |first11=Franco |year=2008 |title=Complete Mitochondrial Genome Sequence of the Tyrolean Iceman |journal=Current Biology |volume=18 |issue=21 |pages=1687–1693 |bibcode=2008CBio...18.1687E |doi=10.1016/j.cub.2008.09.028 |pmid=18976917 |s2cid=13983702 |doi-access=free}}</ref> A multiplex assay study was able to confirm that the Iceman's mtDNA belongs to a previously unknown European mtDNA clade with a very limited distribution among modern data sets.<ref>{{Cite journal |last=Endicott |first=Phillip |last2=Sanchez |first2=Juan J |last3=Pichler |first3=Irene |last4=Brotherton |first4=Paul |last5=Brooks |first5=Jerome |last6=Egarter-Vigl |first6=Eduard |last7=Cooper |first7=Alan |last8=Pramstaller |first8=Peter |year=2009 |title=Genotyping human ancient mtDNA control and coding region polymorphisms with a multiplexed Single-Base-Extension assay: The singular maternal history of the Tyrolean Iceman |journal=BMC Genetics |volume=10 |pages=29 |doi=10.1186/1471-2156-10-29 |pmc=2717998 |pmid=19545382 |doi-access=free}}</ref> By [[autosomal DNA]], Ötzi is most closely related to [[Indigenous peoples of Europe|Southern Europeans]], especially to geographically isolated populations like [[Corsicans]] and [[Sardinians]].<ref>{{Cite web |date=2015-11-19 |title=Ancient DNA reveals genetic relationship between today's Sardinians and Neolithic Europeans – HudsonAlpha Institute for Biotechnology |url=http://hudsonalpha.org/ancient-dna-reveals-genetic-relationship-between-todays-sardinians-and-neolithic-europeans |url-status=live |archive-url=https://web.archive.org/web/20161008061113/http://hudsonalpha.org/ancient-dna-reveals-genetic-relationship-between-todays-sardinians-and-neolithic-europeans |archive-date=2016-10-08 |access-date=2016-08-30}}</ref><ref>{{Cite journal |last=Keller |first=Andreas |last2=Graefen |first2=Angela |last3=Ball |first3=Markus |last4=Matzas |first4=Mark |last5=Boisguerin |first5=Valesca |last6=Maixner |first6=Frank |last7=Leidinger |first7=Petra |last8=Backes |first8=Christina |last9=Khairat |first9=Rabab |last10=Forster |first10=Michael |last11=Stade |first11=Björn |last12=Franke |first12=Andre |last13=Mayer |first13=Jens |last14=Spangler |first14=Jessica |last15=McLaughlin |first15=Stephen |display-authors=29 |year=2012 |title=New insights into the Tyrolean Iceman's origin and phenotype as inferred by whole-genome sequencing |journal=Nature Communications |volume=3 |pages=698 |bibcode=2012NatCo...3..698K |doi=10.1038/ncomms1701 |pmid=22426219 |doi-access=free |last16=Shah |first16=Minita |last17=Lee |first17=Clarence |last18=Harkins |first18=Timothy T. |last19=Sartori |first19=Alexander |last20=Moreno-Estrada |first20=Andres |last21=Henn |first21=Brenna |last22=Sikora |first22=Martin |last23=Semino |first23=Ornella |last24=Chiaroni |first24=Jacques |last25=Rootsi |first25=Siiri |last26=Myres |first26=Natalie M. |last27=Cabrera |first27=Vicente M. |last28=Underhill |first28=Peter A. |last29=Bustamante |first29=Carlos D. |last30=Vigl |first30=Eduard Egarter}}</ref><ref>{{Cite journal |last=Callaway |first=Ewen |year=2012 |title=Iceman's DNA reveals health risks and relations |url=http://www.nature.com/news/iceman-s-dna-reveals-health-risks-and-relations-1.10130 |url-status=live |journal=Nature |doi=10.1038/nature.2012.10130 |s2cid=85055245 |archive-url=https://web.archive.org/web/20160911110500/http://www.nature.com/news/iceman-s-dna-reveals-health-risks-and-relations-1.10130 |archive-date=2016-09-11 |access-date=2016-08-30}}</ref><ref>{{Cite web |date=2012-02-28 |title=Tratti genetici comuni tra la mummia Oetzi e gli attuali abitanti di Sardegna e Corsica |url=http://notizie.tiscali.it/articoli/scienza/12/02/tratti-genetici-oetzi-abitanti-sardegna-corsica.html |url-status=live |archive-url=https://web.archive.org/web/20120302190033/http://notizie.tiscali.it/articoli/scienza/12/02/tratti-genetici-oetzi-abitanti-sardegna-corsica.html |archive-date=2012-03-02 |publisher=Tiscali |language=it}}</ref> Ötzi traced the majority of his ancestry to the Neolithic [[Early European Farmers|early European farmers]] who [[Pre-modern human migration|migrated]] from Anatolia to Europe beginning during the 7th millennium BC, replacing earlier [[Western Hunter-Gatherer|European hunter-gatherers]] as dominant population.<ref>{{Cite news |last=Pinkowski |first=Jennifer |date=2021-09-15 |title=Ötzi the Iceman: What we know 30 years after his discovery |url=https://www.nationalgeographic.com/history/article/tzi-the-iceman-what-we-know-30-years-after-his-discovery |url-status=dead |archive-url=https://web.archive.org/web/20210915193800/https://www.nationalgeographic.com/history/article/tzi-the-iceman-what-we-know-30-years-after-his-discovery |archive-date=15 September 2021 |work=National Geographic}}</ref> DNA analysis also showed him at high risk of [[atherosclerosis]] and [[lactose intolerance]], with the presence of the [[DNA sequencing|DNA sequence]] of ''[[Borrelia burgdorferi]]'', possibly making him the earliest known human with [[Lyme disease]].<ref name="Keller-2012" /><ref>{{Cite magazine |last=Hall |first=Stephen S. |date=November 2011 |title=Iceman Autopsy |url=http://ngm.nationalgeographic.com/2011/11/iceman-autopsy/hall-text |url-status=dead |archive-url=https://web.archive.org/web/20111019172457/http://ngm.nationalgeographic.com/2011/11/iceman-autopsy/hall-text |archive-date=2011-10-19 |access-date=2011-10-17 |magazine=[[National Geographic Magazine|National Geographic]]}}</ref> A later analysis suggested the sequence may have been a different ''[[Borrelia]]'' species.<ref>{{Cite journal |last=Ames |first=S. K. |last2=Hysom |first2=D. A. |last3=Gardner |first3=S. N. |last4=Lloyd |first4=G. S. |last5=Gokhale |first5=M. B. |last6=Allen |first6=J. E. |date=2013-07-04 |title=Scalable metagenomic taxonomy classification using a reference genome database |journal=Bioinformatics |volume=29 |issue=18 |pages=2253–2260 |doi=10.1093/bioinformatics/btt389 |pmc=3753567 |pmid=23828782}}</ref>

The 2023 study on Ötzi's genome found a very high proportion (90%) of [[Early European Farmers|Anatolian farmer-related]] ancestry – in fact, the highest among European populations of the same time—with a lesser contribution from  [[Western Hunter-Gatherer|European hunter-gatherer-related]] ancestry, but (in contrast to the 2012 research) no evidence of [[Western Steppe Herders|Steppe-related]] ancestry,<ref name="Wang-2023">{{Cite journal |last=Wang |first=Ke |last2=Prüfer |first2=Kay |last3=Krause-Kyora |first3=Ben |last4=Childebayeva |first4=Ainash |last5=Schuenemann |first5=Verena J. |last6=Coia |first6=Valentina |last7=Maixner |first7=Frank |last8=Zink |first8=Albert |last9=Schiffels |first9=Stephan |last10=Krause |first10=Johannes |date=2023-08-16 |title=High-coverage genome of the Tyrolean Iceman reveals unusually high Anatolian farmer ancestry |journal=Cell Genomics |volume=3 |issue=9 |pages=100377 |doi=10.1016/j.xgen.2023.100377 |issn=2666-979X |pmc=10504632 |pmid=37719142 |quote=The weighted genetic score of dark pigmentation in the Iceman is estimated to be 0.591, higher than the score of present-day southern European populations taking Sardinians as an example (Table S11), which the Iceman shares closest genetic affinity to (Figure S1) and which represent the highest level of pigmentation among modern-day European groups,29 although it is lower than the score of ancient LBK farmers and the Luxembourg_Loschbour.DG hunter-gatherer. |doi-access=free}}</ref> the disagreement with previous results being attributed to modern human contamination. 
While the absence in Ötzi's genome of genetic components from Western Steppe Herders (WSH) is not surprising because these [[Proto-Indo-Europeans|"Proto-Indo-European"]] populations [[Western Steppe Herders#Steppe Early to Middle Bronze Age|did not arrive in Europe until about 2900 BC]], the unusually low contribution from the [[Western Hunter Gatherer]]s was explained by positing that the genetic mixing between neolithic farmers originating from Anatolia and WHG was still an ongoing process. Also, examining the genetic sites involved in phenotypical traits, the authors concluded that the Iceman, among other things, had likely darker skin than present-day Europeans, but not as dark as the Mesolithic Western Hunter-Gatherers, was likely affected by baldness, and may have suffered from obesity-related metabolic disorders. The article also leaves room for environmental factors as indicative of their darker skin complexion, so more studies will be necessary in the future.<ref name="Wang-2023" />

In October 2013, it was reported that 19 modern [[Tyrol (state)|Tyrolean]] men belong to the same paternal lineage (Y-DNA haplogroup G-L91) as Ötzi, and may share a common ancestor with, and/or descend from close relatives of Ötzi. Scientists from the Institute of Legal Medicine at [[Innsbruck Medical University]] had analysed the DNA of over 3,700 Tyrolean male blood donors and found 19 (c. 0.5%) who shared the same paternal haplogroup with the 5,300-year-old man.<ref>{{Cite news |date=2013-10-10 |title=Link to Oetzi the Iceman found in living Austrians |url=https://www.bbc.co.uk/news/world-europe-24477038 |url-status=live |archive-url=https://web.archive.org/web/20131012043826/http://www.bbc.co.uk/news/world-europe-24477038 |archive-date=2013-10-12 |access-date=2013-10-12 |work=BBC News}}</ref><ref>{{Cite web |last=Bettinger |first=Blaine |date=2013-10-16 |title=Identifying Ötzi the Iceman's Relatives |url=https://thegeneticgenealogist.com/2013/10/16/identifying-otzi-the-icemans-relatives/ |access-date=2023-07-20 |website=The Genetic Genealogist |language=en-US}}</ref>