LOVD–DASH: A comprehensive LOVD database coupled with diagnosis and an at‐risk assessment system for hemoglobinopathies

Abstract excerpt

Hemoglobinopathies are the most common monogenic disorders worldwide. Substantial effort has been made to establish databases to record complete mutation spectra causing or modifying this group of diseases. We present a variant database which couples an online auxiliary diagnosis and at-risk assessment system for hemoglobinopathies (DASH). The database was integrated into the Leiden Open Variation Database...