An evaluation of the draft human genome sequence

Elias Nicholas Katsanis, Kim C. Worley, James R. Lupski*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


The completed draft version of the human genome, comprised of multiple short contigs encompassing 85% or more of euchromatin, was announced in June of 2000 (ref. 1). The detailed findings of the sequencing consortium were reported several months later. The draft sequence has provided insight into global characteristics, such as the total number of genes and a more accurate definition of gene families. Also of importance are genome positional details such as local genome architecture, regional gene density and the location of transcribed units that are critical for disease gene identification. We carried out a series of mapping and computational experiments using a nonredundant collection of 925 expressed sequence tags (ESTs) and sections of the public draft genome sequence that were available at different timepoints between April 2000 and April 2001. We found discrepancies in both the reported coverage of the human genome and the accuracy of mapping of genomic clones, suggesting some limitations of the draft genome sequence in providing accurate positional information and detailed characterization of chromosomal subregions.

Original languageEnglish (US)
Pages (from-to)88-91
Number of pages4
JournalNature Genetics
Issue number1
StatePublished - 2001

ASJC Scopus subject areas

  • Genetics


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