Long-read sequencing bridges germline and somatic variant detection: a multi-modal approach for hereditary…

Cohort studyClinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico· Jun 2026

Long-read sequencing bridges germline and somatic variant detection: a multi-modal approach for hereditary cancer diagnostics.

Behich Koyutourk, Havva Çobanoğulları, Ömer Diker … Mahmut Cerkez Ergoren

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Laboratory Genetics & GenomicsCohort studyQ2IF 2.8

10% of actionable germline cancer variants were missed by liquid biopsy alone

Long-read sequencing bridges germline and somatic variant detection: a multi-modal approach for hereditary cancer diagnostics.

Behich Koyutourk … Mahmut Cerkez Ergoren

Clinical & translational oncology · Jun 2026 · Q2 in General Medicine

Background

Effective management of hereditary cancers requires the accurate detection of both germline and somatic pathogenic variants.

Purpose

In this study, we implemented a multi-modal workflow in 50 cancer patients, integrating plasma-based liquid biopsy, short-read next-generation sequencing (next-generation sequencing) and Oxford Nanopore Technologies-based germline testing.

Results

10% (5/50)

these actionable germline variants would have been missed without germline testing

n = 50 cancer patients

“

Conclusion · 1 of 3

These findings highlight the complementary and non-redundant roles of somatic liquid biopsy and germline analyses.

Conclusion · 2 of 3

Rather than indicating diagnostic equivalence, the results show that each approach captures distinct but clinically relevant genomic information.

Conclusion · 3 of 3

The inclusion of Oxford Nanopore Technologies long-read sequencing may improve the characterization of inherited variants, particularly structural variants and phasing and may support more comprehensive risk assessment and therapeutic planning.

Long-read sequencing bridges germline and somatic variant detection: a multi-modal approach for hereditary cancer diagnostics.

Long-read sequencing bridges germline and somatic variant detection: a multi-modal approach for hereditary cancer diagnostics.

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