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Science
Article
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Science
Article . 2003 . Peer-reviewed
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Science
Article . 2003
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HKU Scholars Hub
Article . 2007
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Human Chromosome 7: DNA Sequence and Biology

Authors: Razi Khaja; Susan J. Kirkpatrick; Deborah R. Nusskern; Rosanna Weksberg; Batsheva Kerem; Andrew P. Boright; Elizabeth J.T. Winsor; +84 Authors
Abstract

DNA sequence and annotation of the entire human chromosome 7, encompassing nearly 158 million nucleotides of DNA and 1917 gene structures, are presented. To generate a higher order description, additional structural features such as imprinted genes, fragile sites, and segmental duplications were integrated at the level of the DNA sequence with medical genetic data, including 440 chromosome rearrangement breakpoints associated with disease. This approach enabled the discovery of candidate genes for developmental diseases including autism.

Countries
Italy, Italy, China (People's Republic of), United Kingdom
Keywords

Williams Syndrome, Expressed Sequence Tag, Euchromatin, Congenital, Mice, Complementary, Neoplasms, Gene Duplication, Databases, Genetic, Genes, Overlapping, In Situ Hybridization, In Situ Hybridization, Fluorescence, Overlapping, Expressed Sequence Tags, Research Support, Non-U.S. Gov't, Chromosome Fragile Sites, Sequence analysis, Chromosome Mapping, Congenital Abnormalitie, Limb Deformities, Expressed sequence tags, Genetic Diseases, Pair 7, Animals; Autistic Disorder; Chromosome Aberrations; Chromosome Fragile Sites; Chromosome Fragility; Chromosome Mapping; Chromosomes, Human, Pair 7; Computational Biology; Congenital Abnormalities; CpG Islands; DNA, Complementary; Databases, Genetic; Euchromatin; Expressed Sequence Tags; Gene Duplication; Genes, Overlapping; Genetic Diseases, Inborn; Genomic Imprinting; Humans; In Situ Hybridization, Fluorescence; Limb Deformities, Congenital; Mice; Molecular Sequence Data; Mutation; Neoplasms; Pseudogenes; RNA; Retroelements; Williams Syndrome; Sequence Analysis, DNA, Dna, complementary, Sequence Analysis, Pseudogenes, Chromosomes, Human, Pair 7, Human, Genetic diseases, DNA, Complementary, inborn - genetics, Retroelements, Genetic diseases, inborn - genetics, Molecular Sequence Data, Limb Deformities, Congenital, Chromosome Aberration, Sequence analysis, dna, Fluorescence, Chromosomes, Congenital Abnormalities, Databases, Pseudogene, Genomic Imprinting, Genetic, complementary, Journal Article, Animals, Humans, human, Autistic Disorder, Chromosome Aberrations, Animal, Chromosome Fragility, Genetic Diseases, Inborn, Computational Biology, DNA, Dna, Sequence Analysis, DNA, Settore MED/15 - MALATTIE DEL SANGUE, Inborn, Genes, Mutation, Animals; Humans; In Situ Hybridization, Fluorescence; Chromosome Mapping; Genomic Imprinting; Limb Deformities, Congenital; DNA, Complementary; Williams Syndrome; Autistic Disorder; Chromosome Fragility; Molecular Sequence Data; Databases, Genetic; Congenital Abnormalities; Pseudogenes; Euchromatin; Gene Duplication; Genes, Overlapping; Mice; Computational Biology; Sequence Analysis, DNA; Retroelements; Chromosomes, Human, Pair 7; Neoplasms; RNA; Genetic Diseases, Inborn; CpG Islands; Chromosome Fragile Sites; Chromosome Aberrations; Expressed Sequence Tags; Mutation, Neoplasm, RNA, CpG Islands, pair 7 - genetics, Chromosome Fragile Site, CpG Island, Chromosomes, human, pair 7 - genetics, Retroelement

  • BIP!
    Impact byBIP!
    citations
    This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    177
    popularity
    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
    Top 10%
    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    Top 1%
    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
    Top 1%
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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
177
Top 10%
Top 1%
Top 1%
bronze