Ph.D. in Bioinformatics, University of Science and Technology of China, 2003-2008
B.S. in Biology, University of Science and Technology of China, 1997-2001
Clinical interpretation of genetic variants
The American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) published in 2015 the updated standards and guidelines for the clinical interpretation of sequence variants with respect to human diseases, based on 28 criteria. However, variability between individual interpreters may be extensive due to lack of standard algorithms that implement these guidelines, yet computational tools for semi-automated variant interpretation are not available. To address these problems, we proposed a suite of methods to implement these criteria, and developed a tool called InterVar to facilitate human reviewers to interpret the clinical significance of variants. Furthermore, we developed a companion web server wInterVar to enable user-friendly variants interpretation with an automated interpretation step on 18 criteria and a manual adjustment step.
Li Q, Wang K. InterVar: Clinical interpretation of genetic variants by ACMG/AMP2015 guidelines. in preparation, 2016