Article

Long-Read Haplotype Phasing Resolves Allelic Configuration as a Missing Layer of Precision Oncology

2026-05-05

Abstract excerpt

Conventional short-read sequencing cannot determine whether co-occurring variants within a cancer gene reside on the same allele ( cis ) or on opposing alleles ( trans ), a distinction with direct biological and therapeutic consequences. Trans configurations confirm biallelic tumor suppressor inactivation and inform therapy selection, while cis configurations generate compound oncogenic alleles with enhanced a...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 83baebb8-dcf6-5692-ad7e-6af799bc8975
DOI: 10.64898/2026.05.05.26351600

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Long-Read Haplotype Phasing Resolves Allelic Configuration as a Missing Layer of Precision OncologyDOI 10.64898/2026.05.05.26351600Read

Long-read sequencing of an advanced cancer cohort resolves rearrangements, unravels haplotypes, and reveals methylation landscapesSemantic proximity Read

Long-range PCR and Nanopore sequencing for localisation and phasing variants: an end-to-end clinical application workflowSemantic proximity Read

Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detectionSemantic proximity Read

Fine Mapping Regulatory Variants by Characterizing Native CpG Methylation with Nanopore Long-Read SequencingSemantic proximity Read

Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection.Semantic proximity Read

Comprehensive benchmarking of somatic structural variant detection at ultra-low allele fractionsSemantic proximity Read

Annotations of Recurrent Structural Variant Events in Pan-cancer Whole Genome Data for Precision MedicineSemantic proximity Read

Defining the heterogeneity of unbalanced structural variation underlying breast cancer susceptibility by nanopore genome sequencing.Semantic proximity Read

MethPhaser: methylation-based long-read haplotype phasing of human genomes.Semantic proximity Read

Rapid identification of genomic structural variations with nanopore sequencing enables blood-based cancer monitoringSemantic proximity Read

Haplotyping germline and cancer genomes with high-throughput linked-read sequencing.Semantic proximity Read

nanoASM: Long-Read Allele-Specific DNA Methylation Profiling Enables Functional Annotation of Regulatory Noncoding Variants in Human Prostate TissuesSemantic proximity Read