ArticleGenome biology2008
Finishing the finished human chromosome 22 sequence.
Article in Genome biology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- NextVir: Enabling classification of tumor-causing viruses with genomic foundation models.PLoS computational biology · 2025Article
- Article
- Comparative genome-wide identification and characterization of SET domain-containing and JmjC domain-containing proteins in piroplasms.BMC genomics · 2024Article
- The 22q11.2 Low Copy Repeats.Genes · 2022Review
- Clinical Features of Aberrations Chromosome 22q: A Pilot Study.Global medical genetics · 2022Article
- Upregulation of long non-coding RNA myocardial infarction-associated transcription is correlated with coronary artery stenosis and elevated inflammation in patients with coronary atherosclerotic heart disease.The Kaohsiung journal of medical sciences · 2021Article
- Promoter polymorphisms in the lncRNA-MIAT gene associated with acute myocardial infarction in Chinese Han population: a case-control study.Bioscience reports · 2020Article
- The 22q11 low copy repeats are characterized by unprecedented size and structural variability.Genome research · 2019Article
- Optical and physical mapping with local finishing enables megabase-scale resolution of agronomically important regions in the wheat genome.Genome biology · 2018Article
- Retrovirus Integration Database (RID): a public database for retroviral insertion sites into host genomes.Retrovirology · 2016Article
- 22q11 deletion syndrome: current perspective.The application of clinical genetics · 2015Review
- Mapping the human reference genome's missing sequence by three-way admixture in Latino genomes.American journal of human genetics · 2013Article
- Sequence and expression analysis of gaps in human chromosome 20.Nucleic acids research · 2012Article
- Novel sequencing strategy for repetitive DNA in a Drosophila BAC clone reveals that the centromeric region of the Y chromosome evolved from a telomere.Nucleic acids research · 2009Article
Corrections and comments
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Authors and funding
12 authors.
Funding
Abstract
backgroundAlthough the human genome sequence was declared complete in 2004, the sequence was interrupted by 341 gaps of which 308 lay in an estimated approximately 28 Mb of euchromatin. While these gaps constitute only approximately 1% of the sequence, knowledge of the full complement of human genes and regulatory elements is incomplete without their sequences.
resultsWe have used a combination of conventional chromosome walking (aided by the availability of end sequences) in fosmid and bacterial artificial chromosome (BAC) libraries, whole chromosome shotgun sequencing, comparative genome analysis and long PCR to finish 8 of the 11 gaps in the initial chromosome 22 sequence. In addition, we have patched four regions of the initial sequence where the original clones were found to be deleted, or contained a deletion allele of a known gene, with a further 126 kb of new sequence. Over 1.018 Mb of new sequence has been generated to extend into and close the gaps, and we have annotated 16 new or extended gene structures and one pseudogene.
conclusionThus, we have made significant progress to completing the sequence of the euchromatic regions of human chromosome 22 using a combination of detailed approaches. Our experience suggests that substantial work remains to close the outstanding gaps in the human genome sequence.
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