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Abstract
The reference sequence for each human chromosome provides the framework for understanding genome function, variation and evolution. Here we report the finished sequence and biological annotation of human chromosome 1. Chromosome 1 is gene-dense, with 3,141 genes and 991 pseudogenes, and many coding sequences overlap. Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. Patterns of sequence variation reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident. Fine-scale recombination occurs in hotspots of varying intensity along the sequence, and is enriched near genes. These and other studies of human biology and disease encoded within chromosome 1 are made possible with the highly accurate annotated sequence, as part of the completed set of chromosome sequences that comprise the reference human genome.
| Type: | Article |
|---|---|
| Title: | The DNA sequence and biological annotation of human chromosome 1 |
| DOI: | 10.1038/nature04727 |
| Keywords: | COPY NUMBER POLYMORPHISM, HUMAN GENOME, ARRAY-CGH, REPLICATION, GENE, EVOLUTION, MAP, TRANSCRIPTION, CHROMATIN, ORGANIZATION |
| UCL classification: | UCL > School of Life and Medical Sciences > Faculty of Medical Sciences > Medicine (Division of) UCL > School of Life and Medical Sciences > Faculty of Medical Sciences > Wolfson Institute and Cancer Institute Administration > Cancer Institute > Research Department of Cancer Biology |
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