Article

Pangenome References Improve Biomarker Estimation from Tumor Sequencing Data

2024-11-15

Abstract excerpt

It has recently been shown that patients from non-European ancestries are at a higher risk of inappropriate clinical intervention because of inaccurate biomarker estimation, arising from the reference bias inherent in standard methods for determining the tumor genome from sequencing data. Here we demonstrate that these inaccuracies can be reduced by using a pangenome reference appropriate for the patient’s populat...

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Identifiers and source

Literature Corpus work: e6c004ec-72cd-591d-853a-867f20418b12
DOI: 10.1101/2024.11.14.623554

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