(Nature) – Conventional tests that look only at a small subset of genetic code often miss variations hiding outside the protein-coding genome.

About 80% of rare diseases are genetic. In their search for disease-causing genetic variants, clinicians regularly refer people for sequencing of pre-determined sets of genes called panels — and more recently, entire exomes. But, although exome sequencing has shortened the diagnostic odyssey for some individuals and families, it still leaves as many as 75% of cases unsolved. (Read More)