An increasing number of human diseases are recognized to result from recurrent DNA
rearrangements involving unstable genomic regions. These are termed genomic disorders …

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

Since its 2001 debut, the University of California, Santa Cruz (UCSC) Genome Browser
(http://genome. ucsc. edu/) team has provided continuous support to the international …

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

As vertebrate genome sequences near completion and research refocuses to their analysis,
the issue of effective genome annotation display becomes critical. A mature web tool for …

Abstract The University of California Santa Cruz (UCSC) Genome Browser Database is an
up to date source for genome sequence data integrated with a large collection of related …

Primate-specific segmental duplications are considered important in human disease and
evolution. The inability to distinguish between allelic and duplication sequence overlap has …

Determination of recombination rates across the human genome has been constrained by
the limited resolution and accuracy of existing genetic maps and the draft genome …

Recurrent gene fusions, typically associated with haematological malignancies and rare
bone and soft-tissue tumours, have recently been described in common solid tumours …

Studies of higher-order chromatin arrangements are an essential part of ongoing attempts to
explore changes in epigenome structure and their functional implications during …