ArticleBMC genomics2015
PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations.
Article in BMC genomics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed.
- Toward the clinical application of long-read sequencing in repeat-expansion disorders.Nature genetics · 2026Review
- LVV SMRTcap reveals extensive proviral variation in lentiviral vector-transduced CAR T cells.bioRxiv : the preprint server for biology · 2026Article
- Long and Accurate: How HiFi Sequencing is Transforming Genomics.Genomics, proteomics & bioinformatics · 2025Review
- Leveraging the power of long reads for targeted sequencing.Genome research · 2024Review
- Resolving the 22q11.2 deletion using CTLR-Seq reveals chromosomal rearrangement mechanisms and individual variance in breakpoints.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Unravelling biosynthesis and biodegradation potentials of microbial dark matters in hypersaline lakes.Environmental science and ecotechnology · 2024Article
- Review
- Review
- Beyond assembly: the increasing flexibility of single-molecule sequencing technology.Nature reviews. Genetics · 2023Review
- Applications of long-read sequencing to Mendelian genetics.Genome medicine · 2023Review
- Long-Read Sequencing in Blood Group Genetics.Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2023Review
- Cas9-Mediated Nanopore Sequencing Enables Precise Characterization of Structural Variants inInternational journal of molecular sciences · 2022Article
- Tandem repeats structure of gel-forming mucin domains could be revealed by SMRT sequencing data.Scientific reports · 2022Article
- High-throughput method for the hybridisation-based targeted enrichment of long genomic fragments for PacBio third-generation sequencing.NAR genomics and bioinformatics · 2022Article
- A method of large DNA fragment enrichment for nanopore sequencing in region 22q11.2.Frontiers in genetics · 2022Article
- Alu element in the RNA binding motif protein, X-linked 2 (RBMX2) gene found to be linked to bipolar disorder.PloS one · 2021Article
- Xdrop: Targeted sequencing of long DNA molecules from low input samples using droplet sorting.Human mutation · 2020Article
- Molecular genetics of leaf rust resistance in wheat and barley.TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik · 2020Review
- Structural variant identification and characterization.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2020Article
- Review
Corrections and comments
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Authors and funding
12 authors.
Funding
Abstract
backgroundGeneration of long (>5 Kb) DNA sequencing reads provides an approach for interrogation of complex regions in the human genome. Currently, large-insert whole genome sequencing (WGS) technologies from Pacific Biosciences (PacBio) enable analysis of chromosomal structural variations (SVs), but the cost to achieve the required sequence coverage across the entire human genome is high.
resultsWe developed a method (termed PacBio-LITS) that combines oligonucleotide-based DNA target-capture enrichment technologies with PacBio large-insert library preparation to facilitate SV studies at specific chromosomal regions. PacBio-LITS provides deep sequence coverage at the specified sites at substantially reduced cost compared with PacBio WGS. The efficacy of PacBio-LITS is illustrated by delineating the breakpoint junctions of low copy repeat (LCR)-associated complex structural rearrangements on chr17p11.2 in patients diagnosed with Potocki-Lupski syndrome (PTLS; MIM#610883). We successfully identified previously determined breakpoint junctions in three PTLS cases, and also were able to discover novel junctions in repetitive sequences, including LCR-mediated breakpoints. The new information has enabled us to propose mechanisms for formation of these structural variants.
conclusionsThe new method leverages the cost efficiency of targeted capture-sequencing as well as the mappability and scaffolding capabilities of long sequencing reads generated by the PacBio platform. It is therefore suitable for studying complex SVs, especially those involving LCRs, inversions, and the generation of chimeric Alu elements at the breakpoints. Other genomic research applications, such as haplotype phasing and small insertion and deletion validation could also benefit from this technology.
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Registered trials
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