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From thousands of SVS to a handful of candidate genes

Mar 1, 2018

Bionano’s genome mapping technology makes it easy for researchers to identify the thousands of large structural variants that can be present in a single genome. But assessing the biological and clinical significance of these variants is a bit more challenging. The Bionano VAP automatically analyzes insertions, deletions, inversion breakpoints and translocations detected by Bionano genome mapping platforms. The output of these analyses is a data file that allows for simple filtering. Researchers can filter for only de novo calls, rare variants, or those likely to affect certain candidate genes or known oncogenic genes, if desired. The final result: from a long list of thousands of hard to interpret variants, the VAP delivers a handful of candidate genes for researchers to focus on.

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Regina Fillerová

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BioNano Genomics

A revolutionary NanoChannel technology for Genome mapping of extremely long DNA without amplification, providing long-range contiguity and eliminating PCR bias.

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