Keeping score of evidence to link genes to disease

What is it about?

The manuscript presents a clinical validity scoring system, which looks at whether published evidence supports that certain changes in a given gene are the true cause of a condition. It considers several factors, such as how many patients with variations in the same gene are affected by the same disease, how many different mutations in the same gene cause a similar set of symptoms, and whether mutating a gene in cells and animals in the lab produces symptoms that mimic the human disease. By awarding a score for each category and adding these values, it can tell whether there is strong, moderate or weak evidence relating a gene to a disease.

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Why is it important?

Even with the ability to look at a person’s entire genome, many people with genetic diseases remain undiagnosed. Previously, this was due to a lack of information, but now it’s because there’s so much new data that it’s hard to tell what’s meaningful. Genes can now be sequenced so quickly and cheaply that sifting through the data has become the biggest challenge. However, this paper presents a way to make sense of it all: it contains a scoring system that can help determine which genes actually cause a particular disease.

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