International researchers find quite disparate results in genomic cancer analysis

Researchers associated with the International Cancer Genome Consortium conducted a study of the procedures and quality of cancer genome sequencing done at different centers. The effort involved 83 researchers from 78 different research institutions. They found that out of more than 1,000 confirmed somatic single-base mutations in the cancer genome that were analyzed, only 40% were found by all the participating teams. They also compared assessments of small insertions of only a single somatic mutation, of which there were 337 identified in total across centers but with only one that was identified by all the teams. Whole genome sequencing of cancer genomes is becoming more common--but if it's to be an accurate tool, researchers must come to a consensus on the relevant mutations. "The findings of our study have far-reaching implications for cancer genome analysis," said Ivo Gut, senior author of the publication and director of the international genomic reference center Centro Nacional de Analisis Genómico in Barcelona, in a release. "We have found many inconsistencies in both the sequencing of cancer genomes and the data analysis at different sites. We are making our findings available to the scientific and diagnostic community so that they can improve their systems and generate more standardized and consistent results." Release | Journal article

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