ArticleNature biotechnology2011
Efficient targeted resequencing of human germline and cancer genomes by oligonucleotide-selective sequencing.
Article in Nature biotechnology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed.
- Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure.PloS one · 2018Trial
- Unveiling the intricacy of gapmer oligonucleotides through advanced tandem mass spectrometry approaches and scan accumulation for 2DMS.The Analyst · 2024Article
- Profiling diverse sequence tandem repeats in colorectal cancer reveals co-occurrence of microsatellite and chromosomal instability involving Chromosome 8.Genome medicine · 2021Article
- High-resolution targeted bisulfite sequencing reveals blood cell type-specific DNA methylation patterns in IL13 and ORMDL3.Clinical epigenetics · 2021Observational
- Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.BMC cardiovascular disorders · 2021Article
- Mutation of Hashimoto's Thyroiditis and Papillary Thyroid Carcinoma Related Genes and the Screening of Candidate Genes.Frontiers in oncology · 2021Article
- Article
- Review
- Association of Intracranial Aneurysms With Aortic Aneurysms in 125 Patients With Fusiform and 4253 Patients With Saccular Intracranial Aneurysms and Their Family Members and Population Controls.Journal of the American Heart Association · 2019Article
- Covalent "Click Chemistry"-Based Attachment of DNA onto Solid Phase Enables Iterative Molecular Analysis.Analytical chemistry · 2019Article
- A robust targeted sequencing approach for low input and variable quality DNA from clinical samples.NPJ genomic medicine · 2018Article
- Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2.BMC medical genetics · 2017Article
- CRISPR-Cas9-targeted fragmentation and selective sequencing enable massively parallel microsatellite analysis.Nature communications · 2017Article
- A genome-wide approach for detecting novel insertion-deletion variants of mid-range size.Nucleic acids research · 2016Article
- Haplotyping germline and cancer genomes with high-throughput linked-read sequencing.Nature biotechnology · 2016Article
- Cardiovascular magnetic resonance findings in patients with PRKAG2 gene mutations.Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance · 2015Article
- Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy.European heart journal · 2015Article
- Accurate genetic diagnosis of Finnish pulmonary arterial hypertension patients using oligonucleotide-selective sequencing.Molecular genetics & genomic medicine · 2015Article
- Combined in vitro transcription and reverse transcription to amplify and label complex synthetic oligonucleotide probe libraries.BioTechniques · 2015Article
- High throughput exome coverage of clinically relevant cardiac genes.BMC medical genomics · 2014Article
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
We describe an approach for targeted genome resequencing, called oligonucleotide-selective sequencing (OS-Seq), in which we modify the immobilized lawn of oligonucleotide primers of a next-generation DNA sequencer to function as both a capture and sequencing substrate. We apply OS-Seq to resequence the exons of either 10 or 344 cancer genes from human DNA samples. In our assessment of capture performance, >87% of the captured sequence originated from the intended target region with sequencing coverage falling within a tenfold range for a majority of all targets. Single nucleotide variants (SNVs) called from OS-Seq data agreed with >95% of variants obtained from whole-genome sequencing of the same individual. We also demonstrate mutation discovery from a colorectal cancer tumor sample matched with normal tissue. Overall, we show the robust performance and utility of OS-Seq for the resequencing analysis of human germline and cancer genomes.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.