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Primary immunodeficiencies, ranging from mild to very severe, comprise more than 50 different entities in which part of the body's immune system is missing or does not function properly. Two studies now report defects in the TNFR family member TACI associated with two forms of human immunodeficiency.
Applied genomics has focused on correlating clinical phenotypes with qualitative differences in DNA sequence such as variations in SNPs. A new study adds a third dimension, allele-specific copy-number differences, combining quantitative and qualitative approaches to understand the relationship between genetic variation and clinical outcome.
A new study describes the use of an alternative splicing microarray to identify exons regulated by the neural-specific Nova splicing factors. Nova2 is also shown to coordinately regulate splicing of a group of functionally related genes that encode a network of interacting proteins at the synapse.