ea0050p181 | Clinical Biochemistry | SFEBES2017
David Alessia
, Ittisoponpisan SIrawit
, Sternberg Michael JE
Introduction: Genetic projects, such as 100KGenomes, are identifying a vast amount of genetic variants that require interpretation. Several variants lack sufficient evidence to be classified as neutral or damaging. Such variants are annotated as unclassified and interpretation of their biological effect is of paramount importance, but remains a major challenge. Variant predictors are widely used to prioritize variants for further studies...