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Nature ; 414(6866): 865-71, 2001.
Artigo em Inglês | MEDLINE | ID: mdl-11780052

RESUMO

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.


Assuntos
Cromossomos Humanos Par 20 , Animais , Sequência de Bases , Biologia Computacional , Mapeamento de Sequências Contíguas , DNA , Doenças Genéticas Inatas/genética , Variação Genética , Humanos , Camundongos , Mapeamento Físico do Cromossomo , Proteoma , Análise de Sequência de DNA
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