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Our Science

Selected Publications

Our staff, advisors and standards committee members are actively involved in publishing high-impact peer reviewed journal articles that continue to shape and direct precision medicine and the clinical genetics and genomics industry. Below are selected publications from our team of industry leaders.

Next-generation Sequencing Bioinformatics: Guidance between the Sequencing and Sign out

Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines: A Joint recommendation of the Association for Molecular Pathology and the College of American Pathologists

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Clinical pharmacogenomics testing in the era of next generation sequencing: challenges and opportunities for precision medicine

Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics

Designing and Implementing NGS Tests for Inherited Disorders: A Practical Framework with Step-by-Step Guidance for Clinical Laboratories

Design and Reporting Considerations for Genetic Screening Tests

Pitfalls in molecular diagnostics

Assessment of in silico protein sequence analysis in the clinical classification of variants in cancer risk genes

The Science and Art of Clinical Genetic Variant Classification and Its Impact on Test Accuracy

(In Press)

Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes

A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes