Improving Cancer Genome Analysis

January 5, 2016
Improving Cancer Genome Analysis
A recent study involving multiple research institutes found significant variations both in sequencing and evaluation results in some of the reports on cancer mutations. [Centro Nacional de Analisis Genómico, (CNAG-CRG)]

Oncologists are increasingly using information obtained from investigations of the tumor genome to find individualized therapies for patients. They specifically search the hereditary information of cancer cells for mutations that drive malignant growth. Targeted drugs against many of these cancer-typical cellular alterations have already become available.

However, how precisely and reliably do the numerous laboratories that specialize in this search around the globe identify individual cancer mutations? And how does the quality and type of sequencing influence results? A team of experts collaborating within the International Cancer Genome Consortium (ICGC) launched an interlaboratory test to find out. They distributed the DNA of a tumor to five ICGC laboratories and compared the quality of the resulting sequencing data records. The data record that had the highest quality was subsequently sent out to another 17 ICGC institutes for bioinformatic evaluation.

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