Exome Sequencing Study of Rare Syndrome Points to Compound Inheritance Involving Regulatory Variants | GenomeWeb

By Andrea Anderson

NEW YORK (GenomeWeb News) – In a study appearing online yesterday in Nature Genetics, investigators from the Wellcome Trust Sanger Institute, the University of Cambridge, and elsewhere used exome sequencing to reveal the compound inheritance patterns behind an autosomal recessive condition called thrombocytopenia with absent radii, or TAR, syndrome.

Get the full story

This story is free
for registered users

Registering provides access to this and other free content.

Register now.

Already have an account?
Login Now.

In PLOS this week: genetic factors associated with facial features, a new mutation that makes individuals more prone to Brugada syndrome, and more.

Nutrigenomic companies offer gene-based diet advice, the Wall Street Journal reports.

Researchers have found a new kind of virus — one that starts out broken up into five parts.

Nature News explores the president's "science legacy."