Language

English

Publication Date

7-1-2026

Journal

Nature

DOI

10.1038/s41586-026-10621-5

PMID

42387168

PMCID

PMC13506173

PubMedCentral® Posted Date

8-26-2026

PubMedCentral® Full Text Version

Author MSS

Abstract

Realizing the promise of precision medicine will require the highest standards of accuracy in genome sequencing and analysis. Here we describe challenges and opportunities for the field through the lens of genome data quality. We present recommendations in the context of specific areas of application for genomic sequencing in which isolated standards have arisen: germline sequencing, tumour sequencing, cell-free DNA testing, and sequencing for quality control in genetic therapy. Despite these distinct clinical contexts, technical challenges are often similar; for example, accurately detecting low-frequency genetic variants in tumour sequencing or gene-edited cells. We call for increased synchronization among these communities to establish new medical genome standards that promote confidence in genomic diagnostics and genetic therapies in a time of rapid technology-driven change. We suggest practical approaches for implementing these genome standards across contexts, and identify key areas that require further development.

Keywords

Humans, Genome, Human, Genomics, Neoplasms, Precision Medicine, Quality Control, Sequence Analysis, DNA

Published Open-Access

yes

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