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.
- Pradhan, Barun et al. (2015) Detection and screening of chromosomal rearrangements in uterine leiomyomas by long-distance inverse PCR. Genes, Chromosomes & Cancer
- Qiao, Wanqiong et al. (2015) Long-read Single-Molecule Real-Time (SMRT) full gene sequencing of cytochrome P450-2D6 (CYP2D6). Human Mutation
- Stella Suyong Lee et al. (2015) ATM Kinase Is Required for Telomere Elongation in Mouse and Human Cells Cell Reports
- James, Timothy Y et al. (2015) Identification of putative coffee rust mycoparasites using single molecule DNA sequencing of infected pustules. Applied and Environmental Microbiology
- Hosomichi, Kazuyoshi et al. (2015) The impact of next-generation sequencing technologies on HLA research. Journal of Human Genetics
- Hargreaves, Chantal E et al. (2015) Fc? receptors: genetic variation, function, and disease. Immunological Reviews
- Neafsey, Daniel E et al. (2015) Genetic diversity and protective efficacy of the RTS,S/AS01 malaria vaccine. The New England Journal of Medicine
- Shukla, Sachet A et al. (2015) Comprehensive analysis of cancer-associated somatic mutations in class I HLA genes. Nature Biotechnology
- Yang, Jie et al. (2015) The dentin phosphoprotein repeat region and inherited defects of dentin Molecular Genetics & Genomic Medicine
- 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
- Ma, Hansong et al. (2015) Selections that isolate recombinant mitochondrial genomes in animals. eLife
- McFarland, Karen N. et al. (2015) SMRT Sequencing of long tandem nucleotide repeats in SCA10 reveals unique insight of repeat expansion structure. PLoS One
- 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
- Koskinen, Lotta L E et al. (2015) Identification of a common risk haplotype for canine idiopathic epilepsy in the ADAM23 gene. BMC Genomics
- 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
- Mayor, Neema P et al. (2015) HLA typing for the next generation. PLoS One
- Agarwal, Prasoon et al. (2015) CGGBP1 mitigates cytosine methylation at repetitive DNA sequences. BMC Genomics
- 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: Ranade, Swati et al. (2016) Immune regions are no longer incomprehensible with SMRT Sequencing
- Poster: Hon, Lawrence S. et al. (2016) Targeted sequencing and cromosomal 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: Ranade, Swati et al. (2015) Multiplexing human HLA class I & II genotyping with DNA barcode adapters for high throughput research.
- Poster: Baybayan, Primo et al. (2015) SMRT Sequencing of DNA and RNA samples extracted from formalin-fixed and paraffin embedded tissues using adaptive focused acoustics by Covaris.
- Poster: Kujawa, Steve et al. (2015) Targeted SMRT Sequencing and phasing using Roche NimbleGen’s SeqCap EZ enrichment
- 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.
- Presentation: Wing, Rod A et al. (2015) Old school/new school genome sequencing: One step backward — a quantum leap forward.
- Podcast: Marsh, Steven (2015) Mendelspod: Long read sequencing dramatically improves blood matching: Steven Marsh
- Conference Presentation: Gibbs, Richard (2015) ASHG Workshop Presentation: Medical diagnostic challenges and structural variation detection using the PacBio Platform
- Conference Presentation: Korlach, Jonas (2015) ASHG Workshop Presentation: Going beyond the $1,000 genome?: the future of high quality de novo human genomes, epigenomes and transcriptomes?
- Customer Experience: Bobby Sebra (2015) At Mount Sinai School of Medicine, Sequence Reads Longer than 70 kb
- Customer Experience: Dan Geraghty (2015) SMRT Sequencing: Delivering Answers to Decades-Old Problems
- Tutorial, Webinar: Lawrence Hon and Denise Raterman (2015) Long Genomic DNA Fragment Capture and SMRT Sequencing Enables Accurate Phasing of Cancer and HLA Loci
- Webinar: Neema Mayor (2015) Benefits of SMRT Sequencing for HLA Typing at Anthony Nolan
- Brochures: Fully phased, allele-specific HLA sequencing – the perfect pair (2015)
- Brochures: Capture your regions of interest in high resolution (2015)
- Brochures: Invaluable insights into immunology (2015)
- Brochures: Gain a deeper understanding of your sequencing data (2015)
- Product Note: Barcoded adapters and barcoded universal primers. (2015)
- Application Notes: Targeted sequencing on the PacBio RS II using the Roche NimbleGen SeqCap EZ system. (2015)
- Case Studies and Interviews: In the Netherlands, scientists crack tough plant genomes with PacBio Sequencer. (2015)