Whole genome variant analysis for diagnostics and medical research

Interpretation of human whole genome sequence data is emerging as the fundamental bioinformatics challenge of the 21st century.  Alexander Kaplun, PhD, Field Applications Scientist at BIOBASE, describes Genome TraxTM, an essential annotation source for identifying disease-related variants and for understanding the effect of variants in a medical context, and shows how relevant variants can be discovered in a sample patient.

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