Article

Wakhan: reconstruction of chromosome-scale copy number profiles of tumor genomes with long-read sequencing

2025-12-15

Abstract excerpt

A common signature of cancer genomes is a complex, rearranged karyotype, characterized by acquired gains or losses of chromosomal material, referred to as somatic copy number alterations (CNAs). Identification of haplotype-specific CNAs from bulk sequencing data is a key step in many short-read cancer genomic workflows; however, short reads have a limited phasing range. In contrast, long reads can directly phase g...

Topics

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

Identifiers and source

Literature Corpus work: afa6c10f-f267-5a23-9d02-ce0b2789f713
DOI: 10.64898/2025.12.11.25342098

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Wakhan: reconstruction of chromosome-scale copy number profiles of tumor genomes with long-read sequencingDOI 10.64898/2025.12.11.25342098Read

Comprehensive analysis of structural variants in breast cancer genomes using single molecule sequencingSemantic proximity Read

Characterizing allele- and haplotype-specific copy numbers in single cells with CHISEL.Semantic proximity Read

Characterizing the allele- and haplotype-specific copy number landscape of cancer genomes at single-cell resolution with CHISELSemantic proximity Read

SAVANA: reliable analysis of somatic structural variants and copy number aberrations in clinical samples using long-read sequencingSemantic proximity Read

Severus: accurate detection and characterization of somatic structural variation in tumor genomes using long readsSemantic proximity Read

SCONCE: a method for profiling copy number alterations in cancer evolution using single-cell whole genome sequencingSemantic proximity Read

Phertilizer: Growing a clonal tree from ultra-low coverage single-cell DNA sequencing of tumorsSemantic proximity Read

Unscrambling cancer genomes via integrated analysis of structural variation and copy numberSemantic proximity Read

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

RCANE: A Deep Learning Algorithm for Whole-genome Pan-Cancer Somatic Copy Number Aberration Prediction using RNA-seq DataSemantic proximity Read

SAVANA: reliable analysis of somatic structural variants and copy number aberrations in clinical samples using long-read sequencingSemantic proximity Read

High-resolution detection of copy number alterations in single cells with HiScannerSemantic proximity Read