ArticleGenetics in medicine : official journal of the American College of Medical Genetics2020
Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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Who cites it
47 citing papers in PubMed.
- Rare solid tumours as indicators of hereditary cancer syndromes.European journal of human genetics : EJHG · 2026Review
- Validation structures for sequence variants of uncertain significance in hereditary cancer.European journal of human genetics : EJHG · 2026Review
- [Genetic diagnostics].Pathologie (Heidelberg, Germany) · 2026Review
- Global impact of germline structural variation on the cancer proteome.Nature communications · 2026Article
- Proof-of-concept study for the detection of somatic structural variant driver alterations using HiFi long-read sequencing in a pediatric leukemia cohort.NPJ genomic medicine · 2026Article
- Generation of quartet reference materials for preimplantation genetic testing for structural rearrangements.BMC genomics · 2026Article
- The transformative impact of ultra-rapid nanopore sequencing in precision medicine.Frontiers in immunology · 2026Review
- Clinical application of long-read sequencing in newborn genetic screening for congenital adrenal hyperplasia.Frontiers in genetics · 2026Article
- The role of Alu elements in causing BRCA1 structural variation and breast cancer susceptibility.Genes & genomics · 2026Review
- Germline structural variations involving the pediatric brain tumor transcriptome include disease-relevant and ancestry-related genes.Acta neuropathologica communications · 2025Article
- A series of reviews in familial cancer: genetic cancer risk in context variants of uncertain significance in MMR genes: which procedures should be followed?Familial cancer · 2025Review
- Unraveling the hidden complexity of cancer through long-read sequencing.Genome research · 2025Review
- Closing the gaps, and improving somatic structural variant analysis and benchmarking using CHM13-T2T.Genome research · 2025Article
- Assessment of Long-Read Sequencing-Based Congenital Adrenal Hyperplasia Genotyping Assay for Newborns in Fujian, China.International journal of neonatal screening · 2025Article
- Rare pathogenic structural variants show potential to enhance prostate cancer germline testing for African men.Nature communications · 2025Article
- Enhanced detection and characterization of germline structural variants in cancer predisposition genes via genome sequencing.Genetics in medicine open · 2025Article
- Molecular diagnosis and preimplantation genetic testing for chromosome 1q21.1 recurrent microduplication.Frontiers in genetics · 2025Article
- Repeat and haplotype aware error correction in nanopore sequencing reads with DeChat.Communications biology · 2024Article
- Article
- Analysis of Preimplantation and Clinical Outcomes of Two Cases by Oxford Nanopore Sequencing.Reproductive sciences (Thousand Oaks, Calif.) · 2024Article
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Authors and funding
30 authors.
Funding
Abstract
purposeStructural 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.
methodsKnown or suspected deleterious germline SVs were identified using Illumina genome sequencing across a cohort of 669 advanced cancer patients with paired tumor genome and transcriptome sequencing. Candidate SVs were subsequently assessed by Oxford Nanopore long-read sequencing.
resultsNanopore sequencing confirmed eight simple pathogenic or likely pathogenic SVs, resolving three additional variants whose impact could not be fully elucidated through short-read sequencing. A recurrent sequencing artifact on chromosome 16p13 and one complex rearrangement on chromosome 5q35 were subsequently classified as likely benign, obviating the need for further clinical assessment. Variant configuration was further resolved in one case with a complex pathogenic rearrangement affecting TSC2.
conclusionOur findings demonstrate that long-read sequencing can improve the validation, resolution, and classification of germline SVs. This has important implications for return of results, cascade carrier testing, cancer screening, and prophylactic interventions.
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