Journal article
Human Chromosome 7: DNA Sequence and Biology
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 …
Authors
Scherer SW; Cheung J; MacDonald JR; Osborne LR; Nakabayashi K; Herbrick J-A; Carson AR; Parker-Katiraee L; Skaug J; Khaja R
Journal
Science, Vol. 300, No. 5620, pp. 767–772
Publisher
American Association for the Advancement of Science (AAAS)
Publication Date
May 2, 2003
DOI
10.1126/science.1083423
ISSN
0036-8075
Associated Experts
Fields of Research (FoR)
Medical Subject Headings (MeSH)
AnimalsAutistic DisorderChromosome AberrationsChromosome Fragile SitesChromosome FragilityChromosome MappingChromosomes, Human, Pair 7Computational BiologyCongenital AbnormalitiesCpG IslandsDNA, ComplementaryDatabases, GeneticEuchromatinExpressed Sequence TagsGene DuplicationGenes, OverlappingGenetic Diseases, InbornGenomic ImprintingHumansIn Situ Hybridization, FluorescenceLimb Deformities, CongenitalMiceMolecular Sequence DataMutationNeoplasmsPseudogenesRNARetroelementsSequence Analysis, DNAWilliams Syndrome