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The DNA Sequence and Comparative Analysis of Human Chromosome 20

P Deloukas  1 L H MatthewsJ AshurstJ BurtonJ G GilbertM JonesG StavridesJ P AlmeidaA K BabbageC L BagguleyJ BaileyK F BarlowK N BatesL M BeardD M BeareO P BeasleyC P BirdS E BlakeyA M BridgemanA J BrownD BuckW BurrillA P ButlerC CarderN P CarterJ C ChapmanM ClampG ClarkL N ClarkS Y ClarkC M CleeS CleggV E CobleyR E CollierR ConnorN R CorbyA CoulsonG J CovilleR DeadmanP DhamiM DunnA G EllingtonJ A FranklandA FraserL FrenchP GarnerD V GrafhamC GriffithsM N GriffithsR GwilliamR E HallS HammondJ L HarleyP D HeathS HoJ L HoldenP J HowdenE HuckleA R HuntS E HuntK JekoschC M JohnsonD JohnsonM P KayA M KimberleyA KingA KnightsG K LairdS LawlorM H LehvaslaihoM LevershaC LloydD M LloydJ D LovellV L MarshS L MartinL J McConnachieK McLayA A McMurrayS MilneD MistryM J MooreJ C MullikinT NickersonK OliverA ParkerR PatelT A PearceA I PeckB J PhillimoreS R PrathalingamR W PlumbH RamsayC M RiceM T RossC E ScottH K SehraR ShownkeenS SimsC D SkuceM L SmithC SoderlundC A StewardJ E SulstonM SwannN SycamoreR TaylorL TeeD W ThomasA ThorpeA TraceyA C TromansM VaudinM WallJ M WallisS L WhiteheadP WhittakerD L WilleyL WilliamsS A WilliamsL WilmingP W WrayT HubbardR M DurbinD R BentleyS BeckJ Rogers
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The DNA Sequence and Comparative Analysis of Human Chromosome 20

P Deloukas et al. Nature.

Abstract

The finished sequence of human chromosome 20 comprises 59,187,298 base pairs (bp) and represents 99.4% of the euchromatic DNA. A single contig of 26 megabases (Mb) spans the entire short arm, and five contigs separated by gaps totalling 320 kb span the long arm of this metacentric chromosome. An additional 234,339 bp of sequence has been determined within the pericentromeric region of the long arm. We annotated 727 genes and 168 pseudogenes in the sequence. About 64% of these genes have a 5' and a 3' untranslated region and a complete open reading frame. Comparative analysis of the sequence of chromosome 20 to whole-genome shotgun-sequence data of two other vertebrates, the mouse Mus musculus and the puffer fish Tetraodon nigroviridis, provides an independent measure of the efficiency of gene annotation, and indicates that this analysis may account for more than 95% of all coding exons and almost all genes.

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