A tool to unlock the ‘numbers game’ of big data in rare disease research

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A tool to unlock the ‘numbers game’ of big data in rare disease research

Computational scientists at St. Jude Children’s Research Hospital have created a tool to find genes and genetic variants that predispose people to rare diseases. Finding genes and genetic variants that contribute to rare diseases is difficult due to confounding factors introduced when using large public datasets. The tool offers a solution to account for the confounders and identify statistically significant results. The evidence was published today in Nature Communications.

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