President's Corner - Quantitative Interpretation of Sequence Variants, Part 2  

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In my previous President’s corner, I outlined the rationale for quantitative interpretation of sequence variants and presented our quantitative definitions of the five interpretation categories (Pathogenic, Likely Pathogenic, Uncertain, Likely Benign and Benign). In this Issue, I discuss in more detail two quantitative approaches with results and with limitations and pitfalls. 

Marshfield Based PreventionGenetics Earns Accreditation For Global Testing 

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Marshfield, WI - PreventionGenetics, LLC, in Marshfield, Wisconsin achieved ISO 15189:2012 accreditation through the American Association for Laboratory Accreditation (A2LA). 

PreventionGenetics is one of few US based clinical genetic testing laboratories which have acquired the international quality assurance standard, making the company a provider of choice for international companies seeking NextGen panels, single gene tests, and deletion/duplication testing via high density gene-centric aCGH. 

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.