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Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors

31 Oct 2017

Abstract excerpt

Whole-exome sequencing of cell-free DNA (cfDNA) could enable comprehensive profiling of tumors from blood but the genome-wide concordance between cfDNA and tumor biopsies is uncertain. Here we report ichorCNA, software that quantifies tumor content in cfDNA from 0.1× coverage whole-genome sequencing data without prior knowledge of tumor mutations. We apply ichorCNA to 1439 blood samples from 520 patients with...

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PMID: 29109393
DOI: 10.1038/s41467-017-00965-y

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