An assessment of the sequence gaps: Unfinished business in a finished human genome
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Summary
The presence of recent segmental duplications is the most important predictor of gap location in euchromatic sequences and the resolution of these regions remains an important challenge for the completion of the human genome, gene annotation and SNP assignment.
- Type
- review
- Published
- 2004-05-01
- Cited by
- 192
- References
- 79
- OpenAlex
- https://openalex.org/W2013992544
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:18628150
Keywords
Euchromatin, Biology, Genome, Human genome, Heterochromatin
References
- Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements.
- Characterization of the glutathione S-transferase GSTT1 deletion: discrimination of all genotypes by polymerase chain reaction indicates a trimodular genotype-phenotype correlation.
- Characterization of an Alphoid Subfamily Located Near P-arm Sequences on Human Chromosome 22
- A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome
- Integration of cytogenetic landmarks into the draft sequence of the human genome
- The Tre2 (USP6) oncogene is a hominoid-specific gene
- The mosaic structure of human pericentromeric DNA: a strategy for characterizing complex regions of the human genome.
- Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation.
- Incognito rRNA and rDNA in databases and libraries.
- Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21
- A vision for the future of genomics research
- A plea to search for deletion polymorphism through genome scans in populations.
- Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits.
- Human-specific duplication and mosaic transcripts: the recent paralogous structure of chromosome 22.
- Human rDNA: evolutionary patterns within the genes and tandem arrays derived from multiple chromosomes.
- TRAP: Tandem Repeat Assembly Program produces improved shotgun assemblies of repetitive sequences
- Human ribosomal RNA genes: orientation of the tandem array and conservation of the 5' end.
- Positive selection of a gene family during the emergence of humans and African apes
- Reevaluating human gene annotation: a second-generation analysis of chromosome 22.
- The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats.
Cited by
- [Copy number variations in the human genome: their mutational mechanisms and roles in diseases].
- Molecular cloning of a translocation breakpoint hotspot in 22q11.
- Sequence and expression analysis of gaps in human chromosome 20
- Organization of the centromeric satellite I cluster and D21Z1 short arm junction region of human chromosome 21
- Characterizing and interpreting genetic variation from personal genome sequencing.
- DNA Copy Number Variation in Autism
- Sequence Finishing and Mapping of Drosophila melanogaster Heterochromatin
- The human genome and its upcoming dynamics.
- Organization and composition of the alpha21-II region of human chromosome 21
- Utilizing mapping targets of sequences underrepresented in the reference assembly to reduce false positive alignments
- Analyse von Zentromer-DNA für die Erzeugung künstlicher Chromosomen
- Caracterización de la región cromosómica 15q11-q13 del genoma humano. Variabilidad genómica en el autismo e identificación de ncRNAs
- Evidence for chromosome fragility at the frataxin locus in Friedreich ataxia
- DNPTrapper: an assembly editing tool for finishing and analysis of complex repeat regions
- Detecting copy number changes in genomic DNA: MAPH and MLPA.
- Primate segmental duplications: crucibles of evolution, diversity and disease
- Expansion of a novel endogenous retrovirus throughout the pericentromeres of modern humans
- Non-B DNA structure-induced genetic instability and evolution
- FISH Applications for Genomics and Plant Breeding Strategies in Tomato and Other Solanaceous Crops
- Two drafts, one genome? Human diversity and human genome research
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