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.
- 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
- 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
- Hosomichi, Kazuyoshi et al. (2015) The impact of next-generation sequencing technologies on HLA research. Journal of Human Genetics
- 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
- Hayward, D R et al. (2015) The novel HLA-B*44 allele, HLA-B*44:220, identified by Single Molecule Real-Time DNA sequencing in a British Caucasoid male. Tissue Antigens
- 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
- Orkunoglu-Suer, Funda et al. (2015) Targeted single molecule sequencing methodology for ovarian hyperstimulation syndrome. 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
- 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: Kujawa, Steve et al. (2015) Targeted SMRT Sequencing and phasing using Roche NimbleGen’s SeqCap EZ enrichment
- Presentation: Wing, Rod A et al. (2015) Old school/new school genome sequencing: One step backward — a quantum leap forward.
- 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 Note: Targeted sequencing on the PacBio RS II using the Roche NimbleGen SeqCap EZ system. (2015)
- Case Study: In the Netherlands, scientists crack tough plant genomes with PacBio Sequencer. (2015)