Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing.

doi:10.1038/s41436-020-0880-8

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2020

Thibodeau My Linh, O'Neill Kieran, Dixon Katherine, Reisle Caralyn, Mungall Karen L, Krzywinski Martin, Shen Yaoqing, Lim Howard J, Cheng Dean, Tse Kane, Wong Tina, Chuah Eric, Fok Alexandra, Sun Sophie, Renouf Daniel, Schaeffer David F, Cremin Carol, Chia Stephen, Young Sean, Pandoh Pawan, Pleasance Stephen, Pleasance Erin, Mungall Andrew J, Moore Richard, Yip Stephen, Karsan Aly, Laskin Janessa, Marra Marco A, Schrader Kasmintan A, Jones Steven J M

Abstract excerpt

PURPOSE: Structural variants (SVs) may be an underestimated cause of hereditary cancer syndromes given the current limitations of short-read next-generation sequencing. Here we investigated the utility of long-read sequencing in resolving germline SVs in cancer susceptibility genes detected through short-read genome sequencing. METHODS: Known or suspected deleterious germline SVs were identified using Illumina...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Base Sequence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cancer Genomics and Diagnostics

Share to Genetic factors in colorectal cancer

Share to Genetic Predisposition to Disease

Share to Genome

Share to Genomics and Rare Diseases

Share to High-Throughput Nucleotide Sequencing

Share to Neoplasms

Source

Open in PubMed Open full text

Identifiers

PMID: 32624572
DOI: 10.1038/s41436-020-0880-8
PMCID: PMC7605438

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing.PMID 32624572Read ↗

Targeted long-read sequencing resolves complex structural variants and identifies missing disease-causing variantsSemantic proximity Read ↗

Sequencing approaches in hereditary cancer testing: strengths, limitations and future directionsSemantic proximity Read ↗

Targeted long-read sequencing identifies missing disease-causing variation.Semantic proximity Read ↗

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencingSemantic proximity Read ↗

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

HiFi long-read genomes for difficult-to-detect clinically relevant variantsSemantic proximity Read ↗

Nanopore Sequencing Unveils Somatic Structural Variations as Biomarkers in Laryngeal squamous cell carcinoma GenomesSemantic proximity Read ↗

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

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

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

Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disordersSemantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.