Diagnosis Through the Power of Many: PGxome Now Available
We are excited to announce the launch of PGxome, PreventionGenetics' whole exome sequencing test!
President's Corner - Quantitative Interpretation of Sequence Variants
Interpretation of sequence variants is certainly one of the greatest current challenges in clinical genetics. Despite the impressive new ACMG interpretation guidelines (Richards et al. 2015 Genet Med 17:405-424), variant interpretation is still a highly subjective exercise. Two highly experienced and skilled geneticists each examining exactly the same evidence will often come up with different interpretations.