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New Blood: Alleles Rarer than a Needle in a Haystack

(runtime: 2:32 min)

One in a million babies is born with a disease named NOMID. It can be fatal, but early treatment can help. While NOMID is easily detected in patients with germline mutations in the NLRP3 gene, it's much harder in non-germline cases; due to somatic mosaicism, a blood sample may bear only a few copies of disease allele. Could a next gen sequencing approach help study such rare alleles? Research suggests yes: By using high fidelity PrimeSTAR GXL polymerase, pyrosequencing, and careful statistical analysis, scientists identified NLRP3 somatic mosaicism with >99.9% confidence. That's Good Science!™

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