CNV Custom Algorithm

DBHi's contributions to bioinformatics and genomics research include development of algorithms for use by other computational biologists.

One area of particular concern in genomic analysis is the correct identification of structural variations in the absence of full genomic sequence. DBHi's genome analysis team questioned the sensitivity of existing commonly used algorithms and found a need for an enhanced ability to increase or decrease sensitivity based on data from thousands of healthy individuals. The resulting algorithm allows researchers to balance Type I and II errors as a function of CNV size as described in the manuscript referenced below.