When sequencing fails to pinpoint a rare disease

(American Society for Biochemistry and Molecular Biology) Genomics fails to diagnose up to half of patients who are tested. German scientists tackled the problem in a recent study in the journal Molecular& Cellular Proteomics. Using a new neutrophil proteome database they made genetic diagnoses for children with severe congenital neutropenia whom typical sequencing had failed.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news