When Lincoln Hibbard was born last spring with birth defects that kept him in neonatal intensive care for 53 days, his parents had to grapple with the haunting question: Why? Because of a study ...

Genome sequencing has been a cornerstone of genomics research and personalized medicine, enabling the detailed mapping of genetic information. However, the completeness and accuracy of human genome ...

Today’s clinicians use recombinant therapeutic proteins, such as monoclonal antibodies, to treat many diseases, from autoimmune disorders to cancer and beyond. Nonetheless, sequence variants (SVs), ...