Variant Prioritization in Rare Mendelian Disorders
MassGenomics,
Few areas of biomedical research have benefited more from next-gen sequencing than studies of rare inherited diseases. Rapid…
GPHN deletions in IGE and mutation-dependent recessive inheritance
Beyond the Ion Channel,
Living in Cologne is a little tough at the moment. Currently, we are in the middle of the Cologne Carnival, the world’s oldest…
Ten Years and 50 Publications in Big Science
MassGenomics,
This week at the American Journal of Human Genetics you’ll find a new method for exome-based mapping and rare variant…