Diagnosis Through the Power of Many: PGxome Now Available

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We are excited to announce the launch of PGxome, PreventionGenetics' whole exome sequencing test!

President's Corner - Quantitative Interpretation of Sequence Variants

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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.