Red herrings in the gene pool

Genome-wide association studies can reveal links between diseases, genomic variants and gene expression, but researchers may have to look past their annotated hits to find the real culprits of dysregulation, particularly in the brain. In a study published in Nature Medicine, a team from the Lieber Institute for Brain Development uncovered a strong association between schizophrenia and an uncharacterized splice variant of arsenite methyltransferase (AS3MT) in the brain, whose better-known isoform was not linked to the disease.

Principal investigator Daniel Weinberger told BioCentury that genomic studies of the brain are especially prone to red herrings: previous work from his lab showed about 40% of genes expressed there do not fit prior annotations...