Exciting advances in fluorescence in situ hybridization and array-based techniques are
changing the nature of cytogenetics, in both basic research and molecular diagnostics …

The association of DNA copy-number variation (CNV) with specific gene function and
human disease has been long known, but the wide scope and prevalence of this form of …

The human genome holds an extraordinary trove of information about human development,
physiology, medicine and evolution. Here we report the results of an international …

The human X chromosome has a unique biology that was shaped by its evolution as the sex
chromosome shared by males and females. We have determined 99.3% of the euchromatic …

Segmental duplications play fundamental roles in both genomic disease and gene
evolution. To understand their organization within the human genome, we have developed …

The human genome holds an extraordinary trove of information about human development,
physiology, medicine and evolution. Here we report the results of an international …

Reports the construction of the whole-genome bacterial artificial chromosome (BAC) map
and its integration with previous landmark maps and information from mapping efforts …

Chromosome 6 is a metacentric chromosome that constitutes about 6% of the human
genome. The finished sequence comprises 166,880,988 base pairs, representing the …

Our genome unveiled | Nature Skip to main content Thank you for visiting nature.com. You are
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The reference sequence for each human chromosome provides the framework for
understanding genome function, variation and evolution. Here we report the finished …