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The journal has now begun to commission reviews on variation at selected loci as a way to demonstrate that microattribution can produce the required incentive for high-quality community annotation of the human genome.
Accurate measurements of genomic copy number polymorphisms are required to define their medical relevance, but obtaining such measurements for multiallelic copy number variants has been challenging. A copy-number study of psoriasis now sets some useful precedents for a maturing field.
Aberrant meiotic recombination can result in disease-causing chromosome microdeletions or microduplications. A new study of several disease-associated recombination hot spots in male germ cells shows that some genomic rearrangements, particularly microduplications, are significantly underdiagnosed.
Breast tumors with deficiency in DNA double-strand break repair might be expected to show aneuploidy. A new study shows that microdeletions in PTEN, resulting in complete loss of PTEN protein, are signature lesions in these cancers, particularly those arising in BRCA1-mutation carriers.
Primary cilia and planar cell polarity (PCP) proteins both contribute to cell polarization, but their relationship is unclear. A new study shows that, in the organ of Corti, primary cilia are required for morphological polarization of sensory hair cells and function downstream of the PCP signaling proteins.