ArticleLeukemia2011
Targeted next-generation sequencing detects point mutations, insertions, deletions and balanced chromosomal rearrangements as well as identifies novel leukemia-specific fusion genes in a single procedure.
Article in Leukemia, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 48 citations in OpenAlex.
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- Seed management using NGS technology to rapidly eliminate a deleterious allele from rice breeder seeds.Breeding science · 2022Article
- Somatic Mutations in Oncogenes Are in Chronic Myeloid Leukemia AcquiredFrontiers in oncology · 2021Article
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- Fast and accurate mutation detection in whole genome sequences of multiple isogenic samples with IsoMut.BMC bioinformatics · 2017Article
- SV-STAT accurately detects structural variation via alignment to reference-based assemblies.Source code for biology and medicine · 2016Article
- Comprehensive mutation profiling by next-generation sequencing of effusion fluids from patients with high-grade serous ovarian carcinoma.Cancer cytopathology · 2015Article
- Recombination in viruses: mechanisms, methods of study, and evolutionary consequences.Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases · 2015Review
- Positional cloning and next-generation sequencing identified a TGM6 mutation in a large Chinese pedigree with acute myeloid leukaemia.European journal of human genetics : EJHG · 2015Article
- Application of next generation sequencing to human gene fusion detection: computational tools, features and perspectives.Briefings in bioinformatics · 2013Review
- Genetics of type 2 diabetes in East Asian populations.Current diabetes reports · 2012Review
- High-throughput detection of actionable genomic alterations in clinical tumor samples by targeted, massively parallel sequencing.Cancer discovery · 2012Article
- Genomic hallmarks of genes involved in chromosomal translocations in hematological cancer.PLoS computational biology · 2012Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
DNA sequence enrichment from complex genomic samples using microarrays enables targeted next-generation sequencing (NGS). In this study, we combined 454 shotgun pyrosequencing with long oligonucleotide sequence capture arrays. We demonstrate the detection of mutations including point mutations, deletions and insertions in a cohort of 22 patients presenting with acute leukemias and myeloid neoplasms. Importantly, this one-step methodological procedure also allowed the detection of balanced chromosomal aberrations, including translocations and inversions. Moreover, the genomic representation of only one of the partner genes of a chimeric fusion on the capture platform also permitted identification of the novel fusion partner genes. Using acute myeloid leukemias harboring RUNX1 abnormalities as a model system, three novel chromosomal fusion sequences and KCNMA1 as a novel RUNX1 fusion partner gene were detected. This assay has the strong potential to become an important method for the comprehensive genetic characterization of particular leukemias and other malignancies harboring complex genomes.
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