Jianling Ji1,2, Brian Lee3, Ryan Schmidt1,2, Estrine, Dolores1, Dennis T. Maglinte1, Westley Sherman3, Ryan Peralta3, Megan Roytman3, Shalini Verma3, Soheil Shams3, Gordana Raca1,2
The ACMG, in collaboration with ClinGen developed and published updated detailed technical standards for interpretation and reporting of constitutional copy number variants [1-2]. The updated standards were influenced by the ACMG standards for interpretation of sequence variants with a detailed algorithmic approach that looks at various sources of evidence in favor of a variant being pathogenic or benign with each evidence having a numerical weight that is added together to arrive at a final interpretation. Although the standard is very useful in arriving at a consistent classification, manually performing the review for every variant that is detected by high-resolution technologies, such as SNP microarrays or NGS, can be prohibitively time consuming. We have developed a software tool that automatically calculates the score for many of the evidence categories described by the standards.
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1 Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children’s Hospital Los Angeles, Los Angeles, California, USA
2 Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California, USA
3 BioDiscovery, Inc, El Segundo, California, USA