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AncientDNAandGeneticEngineering
consortiumwasthatallhumangenomesequenceinformationwouldbe
freelyandpubliclyavailablewithin24hoursofitsassemblyżInthemean-
time,aprivatebiotechnologycompanycalledCeleraGenomicsalsoentered
theracetosequencethehumangenomeżLedbyDrżCraigVenter,Celera
proclaimedthatitwouldsequencetheentirehumangenomewithinthree
yearsżInFebruary2001,bothgroupsintwoseparatearticles(Landeretalż,
2001;Venteretalż,2001)simultaneouslypublisheddraftsofthehuman
genomesequenceżDuetotechnicaladvancesinDNAsequencingmethods
andaproductivelevelofsynergybetweenthetwogroups,theytiedatthe
fnishline,andbothprojectswerecompletedaheadofscheduleżTheIHGSC
pursuedthesecondphaseoftheproject:thefnishingphase(IHGSC,2004)ż
Duringthisphase,theresearchersflledingapsandresolvedDNAsequences
inambiguousareasthatwerenotsolvedduringthefrstphaseżThefnish-
ingphaseyielded99%ofthehumangenomeinthefnalformżThefnal
formofthehumangenomecontained2ż85billionnucleotides,withapre-
dictederrorrateof1eventper100,000basessequencedżFurthermore,
theIHGSCreducedthenumberofgapsby400-fold;only341gapsoutof
147
,821gapsremainedżTheremaininggapswereassociatedwithtechnically
challengingchromosomalregionsżAlthoughtheearlierdraftpublications
hadpredictedasmanyas40,000protein-encodinggenes,thefnishing
phasereducedthisestimatetobetween20,000and25,000ż
Today,theoverwhelmingsuccessoftheprojectisreadilyapparentżThe
completionofthisprojectusheredinanewerainmedicineżItisnowpos-
sibletolearnwhichofourillnesseshaveageneticbackgroundandtoiden-
tifygenesresponsibleforthemżTheHumanGenomeProjectalsobrought
signifcantadvancesintechnologiesusedtosequenceDNAż
OneparticularlystrikingfindingoftheHumanGenomeProject
researchisthatthehumannucleotidesequenceisnearlyidentical(99ż9%)
betweenanytwoindividualsżHowever,evenasinglenucleotidechangein
asinglegenecanberesponsibleforahumandiseaseżBecauseofthis,
ourknowledgeofthehumangenomesequencehasalsocontributed
immenselytoourunderstandingofthemolecularmechanismsunderlying
amultitudeofhumandiseasesżFurthermore,amergingofcytogenetic
approacheswiththehumangenomesequencewillcontinuetopropelour
understandingofhumandiseasestoanentirelynewlevelżThus,although
itwasmetwithskepticismatitsinception,theHumanGenomeProject
