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ARTICLE | Discovery & Translation

Shifting from binary markers to whole-genome signatures in cancer

Classifying tumors by mutational patterns across the whole genome could enable more predictive patient stratification and drug matching

May 27, 2022 12:15 AM UTC

An algorithm built on Genomics England’s data troves is bringing tumor mutational signatures closer to replacing a gene-by-gene view of patient stratification.

The approach, published in Science by a University of Cambridge team, relies on growing access to whole-genome sequencing (WGS), which at about $600 is becoming comparable to standard-of-care approaches like CT scans, said principal investigator Serena Nik-Zainal. “I think there will be a paradigm shift, moving toward having the complete profile.”...

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