Genomics

Missed mutations in cancer genomes

Journal name:
Nature
Volume:
528,
Page:
310
Date published:
DOI:
doi:10.1038/528310c
Published online

A comparison of cancer-genome sequences produced by 18 different research teams reveals that less than half of cancer-linked mutations were identified by all the groups. This suggests that differences in experimental procedures and analysis could reduce the accuracy of cancer-genome sequencing, which is increasingly used in the clinic.

Ivo Gut at Spain's National Centre for Genomic Analysis in Barcelona, together with researchers in the International Cancer Genome Consortium, looked for genetic differences in cancerous and healthy tissue from the same person. They then compared these results with a benchmark that used ten times more sequencing data than usual. Out of more than 1,200 single-letter mutations, only 40% were identified by all 18 teams.

DNA preparation and other parameters can be optimized easily to improve sequencing accuracy, the authors say.

Nature Commun. 6, 10001 (2015)

Additional data