Sequence your targets
Targeted sequencing is a powerful way to increase the cost-effectiveness of variant discovery and detection. To generate a full view of relevant targets, you need complete and uniform coverage across regions of interest. Unfortunately, short-read sequencing data is prone to mis-mapping and often fails to span repeats. Additionally, PCR-related bias can result in insufficient coverage for variant calling in GC-rich regions1.
Access the full spectrum of genetic variation
Single Molecule, Real-Time (SMRT) Sequencing combines single-molecule observation, long-read sequencing, and the lowest degree of bias to fully characterize genetic complexity — including structural variation, rare SNPs, indels, copy number variation, microsatellites, haplotypes, and phasing. Through targeted sequencing on the PacBio Systems, you move beyond simply cataloging SNPs and target all types of variation across relevant genomic regions, including low complexity regions like repeat expansions, promoters, and flanking regions of transposable elements.
PacBio sequencing hits the targets others miss
- Characterize complex regions underlying human genetic disease
- Perform candidate gene or domestication studies for plants and animals
- Resolve complex regions in microbial and infectious disease research
- Phase full-length HLA allele variation without imputation
- Characterize extended haplotypes of complex immune regions
- Fill knowledge gaps with BAC sequencing
To learn more about accessing the full spectrum of genetic variation, contact us.
- Carneiro, M. O. et al., (2012) Pacific Biosciences sequencing technology for genotyping and variation discovery in human data. BMC Genomics. 13, 375.
- Sheppard, Anna E et al. (2016) Nested Russian doll-like genetic mobility drives rapid dissemination of the Carbapenem resistance gene blaKPC Antimicrobial Agents and Chemotherapy
- Pham, Thang T et al. (2016) Single-locus enrichment without amplification for sequencing and direct detection of epigenetic modifications. Molecular Genetics and Genomics
- Rafati, Nima et al. (2016) Large deletions at the SHOX locus in the pseudoautosomal region are associated with skeletal atavism in Shetland ponies. G3
- Badran, Ahmed H et al. (2016) Continuous evolution of Bacillus thuringiensis toxins overcomes insect resistance. Nature
- Witek, Kamil et al. (2016) Accelerated cloning of a potato late blight-resistance gene using RenSeq and SMRT sequencing. Nature Biotechnology
- Witek, Kamil et al. (2016) SMRT RenSeq protocol Protocol Exchange
- Palmer, William H et al. (2016) Variation and evolution of the glutamine-rich repeat region of Drosophila Argonaute-2 bioRxiv
- Hall, Andrew Brantley et al. (2016) Radical remodeling of the Y chromosome in a recent radiation of malaria mosquitoes. Proceedings of the National Academy of Sciences
- Zhang, Huibin et al. (2016) Comprehensive mutagenesis of the fimS promoter regulatory switch reveals novel regulation of type 1 pili in uropathogenic Escherichia coli. Proceedings of the National Academy of Sciences
- Gowda, Malali et al. (2016) Comparative analyses of low, medium and High-resolution HLA typing technologies for human populations Journal of Clinical & Cellular Immunology
- De Ravin, Suk See et al. (2016) Targeted gene addition in human CD34(+) hematopoietic cells for correction of X-linked chronic granulomatous disease. Nature Biotechnology
- Pradhan, Barun et al. (2016) Detection and screening of chromosomal rearrangements in uterine leiomyomas by long-distance inverse PCR. Genes, Chromosomes & Cancer
- Yang, Jie et al. (2016) The dentin phosphoprotein repeat region and inherited defects of dentin. Molecular Genetics & Genomic Medicine
- Qiao, Wanqiong et al. (2015) Long-read Single-Molecule Real-Time (SMRT) full gene sequencing of cytochrome P450-2D6 (CYP2D6). Human Mutation
- Lee, Stella Suyong et al. (2015) ATM kinase is required for telomere elongation in mouse and human cells. Cell Reports
- Neafsey, Daniel E et al. (2015) Genetic diversity and protective efficacy of the RTS,S/AS01 malaria vaccine. The New England Journal of Medicine
- Hargreaves, Chantal E et al. (2015) Fc? receptors: genetic variation, function, and disease. Immunological Reviews
- Hosomichi, Kazuyoshi et al. (2015) The impact of next-generation sequencing technologies on HLA research. Journal of Human Genetics
- Shukla, Sachet A et al. (2015) Comprehensive analysis of cancer-associated somatic mutations in class I HLA genes. Nature Biotechnology
- Burke, Gaelen R et al. (2015) Microplitis demolitor bracovirus proviral loci and clustered replication genes exhibit distinct DNA amplification patterns during replication. Journal of Virology
- McFarland, Karen N. et al. (2015) SMRT Sequencing of long tandem nucleotide repeats in SCA10 reveals unique insight of repeat expansion structure. PLoS One
- Ma, Hansong et al. (2015) Selections that isolate recombinant mitochondrial genomes in animals. eLife
- Chen, Hsuan-Yu et al. (2015) R331W Missense Mutation of Oncogene YAP1 Is a Germline Risk Allele for Lung Adenocarcinoma With Medical Actionability. Journal of Clinical Oncology
- Li, Jun-Jie et al. (2015) Complete nucleotide sequences of bla(CTX-M)-harboring IncF plasmids from community-associated Escherichia coli strains in the United States. Antimicrobial Agents and Chemotherapy
- Koskinen, Lotta L E et al. (2015) Identification of a common risk haplotype for canine idiopathic epilepsy in the ADAM23 gene. BMC Genomics
- Agarwal, Prasoon et al. (2015) CGGBP1 mitigates cytosine methylation at repetitive DNA sequences. BMC Genomics
- Mayor, Neema P et al. (2015) HLA typing for the next generation. PLoS One
- Wang, Min et al. (2015) PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations. BMC Genomics
- Orkunoglu-Suer, Funda et al. (2015) Targeted single molecule sequencing methodology for ovarian hyperstimulation syndrome. BMC Genomics
- Poster: Ekholm, JM et al. (2016) Resolving KIR genotypes and haplotypes simultaneously using Single Molecule, Real-Time Sequencing
- Poster: Ranade, Swati et al. (2016) Immune regions are no longer incomprehensible with SMRT Sequencing
- Poster: Hon, Lawrence S. et al. (2016) Targeted sequencing and chromosomal haplotype assembly using TLA and SMRT Sequencing
- Poster: Pollard, Martin O. et al. (2015) HLA variant identification techniques
- Poster: Ranade, S. et al. (2015) Access full spectrum of polymorphisms in HLA class I & II genes, without imputation for disease association and evolutionary research.
- Poster: Lang, Kathrin et al. (2015) Full-length sequencing of HLA class I genes of more than 1000 samples provides deep insights into sequence variability
- Poster: Lang, Kathrin et al. (2015) Phased full-length SMRT Sequencing of HLA DPB1
- Poster: Lee, Walter et al. (2015) Barcoding strategies for multiplexing of samples using a long-read sequencing technology.
- Poster: Hall, Richard J. et al. (2015) Assembly of complete KIR haplotypes from a diploid individual by the direct sequencing of full-length fosmids.
- Poster: Pyo, Chul-Woo et al. (2015) Complete resequencing of extended genomic regions using fosmid target capture and single molecule real-time (SMRT) long read sequencing technology.
- Poster: Ranade, Swati et al. (2015) Multiplexing human HLA class I & II genotyping with DNA barcode adapters for high throughput research.
- Poster: Kujawa, Steve et al. (2015) Targeted SMRT Sequencing and phasing using Roche NimbleGens SeqCap EZ enrichment
- Presentation: Wing, Rod A et al. (2015) Old school/new school genome sequencing: One step backward — a quantum leap forward.
- Marsh, Steven (2015) Mendelspod: Long read sequencing dramatically improves blood matching: Steven Marsh
- Gibbs, Richard (2015) ASHG Workshop Presentation: Medical diagnostic challenges and structural variation detection using the PacBio Platform
- Korlach, Jonas (2015) ASHG Workshop Presentation: Going beyond the $1,000 genome?: the future of high quality de novo human genomes, epigenomes and transcriptomes?
- Bobby Sebra (2015) At Mount Sinai School of Medicine, Sequence Reads Longer than 70 kb
- Dan Geraghty (2015) SMRT Sequencing: Delivering Answers to Decades-Old Problems
- Lawrence Hon and Denise Raterman (2015) Long Genomic DNA Fragment Capture and SMRT Sequencing Enables Accurate Phasing of Cancer and HLA Loci
- Neema Mayor (2015) Benefits of SMRT Sequencing for HLA Typing at Anthony Nolan
- Application Note: Multiplex target enrichment using barcoded multi-kilobase fragments and probe-based capture technologies (2016)
- Application Notes: Targeted sequencing and chromosomal haplotype assembly using Cergentis TLA technology with SMRT Sequencing (2016)
- SMRT Analysis Brochure: Gain a deeper understanding of your sequencing data (2015)
- Immunology Brochure: Invaluable insights into immunology (2015)
- HLA Sequencing Application Brochure: Fully phased, allele-specific HLA sequencing – the perfect pair (2015)
- Targeted Sequencing Application Brochure: Capture your regions of interest in high resolution (2015)
- Product Note: Barcoded adapters and barcoded universal primers. (2015)
- Case Study: In the Netherlands, scientists at KeyGene crack tough plant genomes with PacBio Sequencer. (2015)