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What's the Frequency?

With the creation of the Allele Frequency Community, its founders hope to both foster the sharing of allele frequency data in patients and generate a database that includes data from patients of diverse ethnic backgrounds.

As Qiagen's Ramon Felciano writes in an opinion piece appearing in the Scientist, what's needed to move genome sequencing into the clinic is better interpretation of genomic data. And that means understanding the context of a patient's genetic variants, he adds.

"Current genomic databases are extremely valuable for research, but often lack a diverse representation of ethnic groups from around the globe," Felciano says. "Clinical geneticists trying to determine whether a particular variant is relevant for a patient from one of these underrepresented ethnic groups face a serious challenge, as simple approaches can yield a number of 'red herring' variants thought to be disease-causing that are actually benign."

That, he says, is why his company along with others in industry and academia have formed the Allele Frequency Community. The group encourages researchers to share allele frequencies that they observe to create a dataset that they say is clinically useful, but also safeguards patient privacy. Any researcher can join the group and have access to the information it contains, Felciano says, in return for agreeing to share anonymous, pooled frequency statistics from his or her own samples.

So far, this pooled resource contains some 104,000 samples that represent more than 100 countries of origin, he adds.