Mapping the human genome was only the beginning

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Featured VIP Research: Whole-Genome Sequencing for Optimized Patient Management

Publication: Science Translational Medicine, 15 June, 2011, Authors: Bainbridge M., et al.

Whole Genome sequencing of twins with dopamine responsive dystonia finds compound heterozygote mutations in the gene that is responsible for the production of a cofactor used in production of serotonin and dopamine (SPR). This genomic information was validated via Sanger sequencing, the validated variants highlighted additional molecules that could be targeted in treatment. Read publication

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• Sequencing Studies Implicate Chromatin-Related Genes in Childhood Brain Cancers
  
  “As they reported in Nature Genetics, that team initially did whole-genome sequencing on seven tumor-normal pairs and then used findings from the tumor genomes to guide targeted Sanger sequencing studies on another 69 DIPG or non-brainstem localized pediatric GBM cases.”
  Publication: GenomeWeb Daily News (January 2012)
  Author: GenomeWeb Staff Reporter

• Sanger sequencing here for the long haul
  Publication: CAP Today, October 2011
  Author: Karen Titus

• Somatic retrotransposition alters the genetic landscape of the human brain
  Publication: Nature (October 2011)
  Authors: Baillie et. al.

• Sorting out Sequencing Data
  Publication: Nature Methods (October 2011)
  Author: Monya Baker

• Detection of low prevalence somatic mutations in solid tumors with ultra-deep targeted sequencing
  Publication: Genome Biology (December 2011)
  Authors: Harismendy et. al.

• Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis
  Publication: Journal of Medical Genetics (February 2012)
  Authors: Li et. al.

• A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy
  Publication: Human Molecular Genetics (January 2012)
  Authors: Weterman et. al.

• Re-investigation and RNA sequencing-based identification of genes with placenta-specific imprinted expression
  Publication: Human Molecular Genetics (February 2012)
  Authors: Okae et. al.

• Multiplex Chromosomal Exome Sequencing Accelerates Identification of ENU-Induced Mutations in the Mouse
  Publication: G3: Genes, Genomes, Genetics (January 2012)
  Authors: Sun et. al.

• Primary Colorectal Cancers and Their Subsequent Hepatic Metastases Are Genetically Different: Implications for Selection of Patients for Targeted Treatment
  Publication: Clinical Cancer Research (February 2012)
  Authors: Vermaat et. al.

• Experimental Evolution of a Facultative Thermophile from a Mesophilic Ancestor
  Publication: Applied and Environmental Microbiology (January 2012)
  Authors: Blaby et. al.

• Whole-Genome Sequencing to Identify Mutants and Polymorphisms in Chlamydomonas reinhardtii
  Publication: G3: Genes, Genomes, Genetics (January 2012)
  Authors: Dutcher et. al.

• Convergent structural alterations define SWItch/Sucrose NonFermentable (SWI/SNF) chromatin remodeler as a central tumor suppressive complex in pancreatic cancer
  Publication: PNAS (January 2012)
  Authors: Shain et. al.

• Genomic Sequencing and Characterization of Cynomolgus Macaque Cytomegalovirus
  Publication: Journal of Virology (December 2012)
  Authors: Marsh et. al.

• Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions
  Publication: Human Molecular Genetics (January 2012)
  Authors: Tyynismaa et. al.

• ATM Mutations in Patients with Hereditary Pancreatic Cancer
  Publication: Cancer Discovery (January 2012)
  Authors: Roberts et. al.

• Molecular Ontogeny of Donor-Derived Follicular Lymphomas Occurring after Hematopoietic Cell Transplantation
  Publication: Cancer Discovery (January 2012)
  Authors: Weigert et. al.

• Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing
  Publication: Science Translational Medicine (January 2012)
  Authors: Calvo et. al.

• Whole genome sequencing of penicillin-resistant Streptococcus pneumoniae reveals mutations in penicillin-binding proteins and in a putative iron permease
  Publication: Genome Biology (November 2011)
  Authors: Fani, et. al.

• Metagenomic Analysis of the Viral Flora of Pine Marten and European Badger Feces
  Publication: Journal of Virology (February 2012)
  Authors: van den Brand et. al.

• Accurate identification of A-to-I RNA editing in human by transcriptome sequencing
  Publication: Genome Research (January 2012)
  Authors: Bahn et. al.

• Detection of Base Substitution-Type Somatic Mosaicism of the NLRP3 Gene with >99.9% Statistical Confidence by Massively Parallel Sequencing
  Publication: DNA Research (January 2012)
  Authors: Izawa et. al.

• Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias
  Publication: Brain (December 2011)
  Authors: Wang et. al.

• Autosomal Recessive Retinitis Pigmentosa Caused by Mutations in the MAK Gene
  Publication: Investigative Ophthalmology & Visual Science (December 2011)
  Authors: Stone et. al.

• Extensive, clustered parental imprinting of protein-coding and noncoding RNAs in developing maize endosperm
  Publication: PNAS (December 2011)
  Authors: Zhang et. al.

• Newly Identified Genetic Variations in Common Escherichia coli MG1655 Stock Cultures
  Publication: Journal of Bacteriology (January 2012)
  Authors: Freddolino et. al.

• Identification and Characterization of Genes Required for Compensatory Growth in Drosophila
  Publication: Genetics (December 2011)
  Authors: Gerhold et. al.

• A DOC2 Protein Identified by Mutational Profiling Is Essential for Apicomplexan Parasite Exocytosis
  Publication: Science (January 2012)
  Authors: Farrell et. al.

• High-resolution experimental and computational profiling of tissue-specific known and novel miRNAs in Arabidopsis
  Publication: Genome Research (January 2012)
  Authors: Breakfield et. al.

• Genomic and antigenic characterization of Jos virus
  Publication: Journal of General Virology (February 2012)
  Authors: Bussetti et. al.

• First Complete Mitochondrial Genome Sequence from a Box Jellyfish Reveals a Highly Fragmented Linear Architecture and Insights into Telomere Evolution
  Publication: Genome Biology & Evolution (January 2012)
  Authors: Smith et. al.

• Homozygosity Mapping and Exome Sequencing Reveal GATAD1 Mutation in Autosomal Recessive Dilated Cardiomyopathy
  Publication: Circulation: Cardiovascular Genetics (December 2011)
  Authors: Theis et. al.

• Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb
  Publication: Human Molecular Genetics (December 2011)
  Authors: Kurapati et. al.

• Prognostic relevance of RUNX1 mutations in T-cell acute lymphoblastic leukemia
  Publication: Haematologica (December 2011)
  Authors: Grossmann et. al.

• Complete Genome Sequence of Leuconostoc mesenteroides subsp. mesenteroides Strain J18, Isolated from Kimchi
  Publication: Journal of Bacteriology (February 2012)
  Authors: Jung et. al.

• Complete Genome Sequence of the BTEX-Degrading Bacterium Pseudoxanthomonas spadix BD-a59
  Publication: Journal of Bacteriology (January 2012)
  Authors: Lee et. al.

• Frequent Alterations and Epigenetic Silencing of Differentiation Pathway Genes in Structurally Rearranged Liposarcomas
  Publication:  Cancer Discovery (December 2011)
  Authors: Taylor et. al.

• Oncogene Mutation Profiling of Pediatric Solid Tumors Reveals Significant Subsets of Embryonal Rhabdomyosarcoma and Neuroblastoma with Mutated Genes in Growth Signaling Pathways
  Publication: Clinical Cancer Research (December 2011)
  Authors: Shukla et. al.

• Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms
  Publication: Blood (December 2011)
  Authors: Malkovati et. al.

• Prepping for Targeted Sequencing Cancer Trial, UCSD Publishes First Human Data on MiSeq
  Analysis was restricted to mutations at 5 percent prevalence or higher, and a subset of the mutations was then validated using Sanger sequencing or Snapshot, a single-base extension assay designed by Applied Biosystems.
  Publication: GenomeWeb Clinical Sequencing News (December 2011)
  Author: Monica Heger

• Somatic retrotransposition alters the genetic landscape of the human brain
  Publication: Nature (October 2011)
  Authors: Baillie et. al.

• News Article (Feature Story): Sanger sequencing here for the long haul
  Publication: CAP Today (October 2011)
  Author: Karen Titus

• Exome Sequencing of Head and Neck Squamous Cell Carcinoma Reveals Inactivating Mutations in NOTCH1
  Publication: Science (August 2011)
  Authors: Agrawal et. al.

• Sequencing of 50 Human Exomes Reveals Adaptation to High Altitude
  Publication: Science (July 2010)
  Authors: Yi et. al.

• Whole-Genome Sequencing and Phenotypic Analysis of Bacillus subtilis Mutants following Evolution under Conditions of Relaxed Selection for Sporulation
  Publication: Applied Environmental Microbiology (October 2011)
  Authors: Brown et. al.

• News Article: EdgeBio Tapped to Develop Tools to Judge Genomics X Prize as Goal Shifts to 'Medical-Grade' Genome
  Publication: Clinical Sequencing News, 11/02/2011
  Author: Monica Heger

• Whole-Genome Sequencing for Optimized Patient Management
  Publication: Science Translational Medicine (June 2011)
  Authors: Bainbridge, M. N. et al.

• De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome
  Publication: Nature Genetics (June 2011)
  Authors: Hoischen et. al.

• Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform
  Publication: Journal of Medical Genetics (November 2011)
  Authors: Lim et. al.

• Direct Sequencing and Characterization of a Clinical Isolate of Epstein-Barr Virus from Nasopharyngeal Carcinoma Tissue by Using Next-Generation Sequencing Technology
  Publication: Journal of Virology (November 2011)
  Authors: Liu et. al.

• Distant Mimivirus relative with a larger genome highlights the fundamental features of Megaviridae
  Publication: PNAS (October 2011)
  Authors: Arslan et. al.

• Exome Sequencing identifies ACAD9 mutations as a cause of Complex I Deficiency
  Publication: Nature Genetics (November 2010)
  Authors: Haack et al.

• Evaluation of Oligonucleotide Sequence Capture Arrays and Comparison of Next-Generation Sequencing Platforms for Use in Molecular Diagnostics
  Publication: Clinical Chemistry (August 2010)
  Authors: Ferber et. al.

• Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome
  Publication: American Journal of Human Genetics (May 2011)

• DNA Sequence Capture and Enrichment by Microarray Followed by Next-Generation Sequencing for Targeted Resequencing: Neurofibromatosis Type 1 Gene as a Model
  Publication: Clinical Chemistry (January 2010)
  Authors: Chou et. al.

• Rapid identification of heterozygous mutations in Drosophila melanogaster using genomic capture sequencing
• Publication: Genome Research (July 2010)
  Authors: Wang et. al.

• The genome sequence of the spontaneously hypertensive rat: Analysis and functional significance
  Publication: Genome Research (June 2011)
  Authors: Atanur et. al.

• High-quality draft assemblies of mammalian genomes from massively parallel sequence data
• Publication: PNAS (December 2010)
  Authors: Gnerre et. al.

• Multimodal RNA-seq using single-strand, double-strand, and CircLigase-based capture yields a refined and extended description of the C. elegans transcriptome
  Publication: Genome Research (February 2011)
  Authors: Lamm et. al.

• Discovery of non-ETS gene fusions in human prostate cancer using next-generation RNA sequencing
  Publication: Genome Research (January 2011)
  Authors: Pflueger et. al.

• Distinct patterns of somatic alterations in a lymphoblastoid and a tumor genome derived from the same individual
  Publication: Nucleic Acids Research (April 2011)
  Authors: Galante et. al.

• Sequences of complete human cytomegalovirus genomes from infected cell cultures and clinical specimens
  Publication: Journal of General Virology (March 2010)
  Authors: Cunningham et. al.

• Global analysis of disease-related DNA sequence variation in 10 healthy individuals: Implications for whole genome-based clinical diagnostics
  Publication: Genetics in Medicine (March 2011)
  Authors: Moore et. al.

• Detection of Heterozygous Mutations in the Genome of Mismatch Repair Defective Diploid Yeast Using a Bayesian Approach
  Publication: Genetics (July 2010)
  Authors: Zander et. al.

• Allele-specific methylation is prevalent and is contributed by CpG-SNPs in the human genome
  Publication: Genome Research (April 2010)
  Authors: Shoemaker et. al.

• DAXX/ATRX, MEN1, and mTOR Pathway Genes Are Frequently Altered in Pancreatic Neuroendocrine Tumors
  Publication: Science (January 2011)
  Authors: Jiao et. al.

• Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing
  Publication: PNAS (November 2010)
  Authors: Shearer et. al.

• News Article: University of Iowa Lab to Launch Sequencing-based Genetic Deafness Test this Summer
  Publication: Clinical Sequencing News, 3/22/11
  Author: Julia Karow

• Discovery of Rare Mutations in Populations: TILLING by Sequencing
  Publication: Plant Physiology (July 2011)
  Authors: Tsai et. al.

• Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP
  Publication: Human Molecular Genetics (April 2011)
  Authors: Ropers et. al.

• The Genome of Erysipelothrix rhusiopathiae, the Causative Agent of Swine Erysipelas, Reveals New Insights into the Evolution of Firmicutes and the Organism's Intracellular Adaptations
  Publication: Journal of Bacteriology (April 2011)
  Authors: Ogawa et. al.

• Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13
  Publication: Human Molecular Genetics (January 2011)
  Authors: Çaliskan et. al.

• News Article: Mayo Clinic Plans 2012 Launch for Sequencing-Based Colon Cancer Panel
  Publication: Clinical Sequencing News, 5/10/2011
  Author: Monica Heger

• News Article: NHGRI's ClinSeq Study Finds Clinically Relevant Results, but Challenges Remain
  Publication: Clinical Sequencing News, 5/24/2011
  Author: Julia Karow

• A Massively Parallel Sequencing Approach Uncovers Ancient Origins and High Genetic Variability of Endangered Przewalski's Horses
  Publication: Genome Biology and Evolution (October 2011)
  Authors: Goto et. al.

• Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions
  Publication: Human Molecular Genetics (October 2011)
  Authors: Tyynismaa et. al.

• The Genome of Yoka Poxvirus
  Publication: Journal of Virology (October 2011)
  Authors: Zhao et. al.

• Mutations in CIC and FUBP1 Contribute to Human Oligodendroglioma
  Publication: Science (September 2011)
  Authors: Bettegowda et. al.

• Deep sequencing reveals 50 novel genes for recessive cognitive disorders
  Publication: Nature (October 2011)
  Authors: Najmabadi et. al.

• Mitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10
  Publication: Science (October 2010)
  Authors: Choate et. al.

• K+ Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension
  Publication: Science (February 2011)
  Authors: Choi et. al.

• Frequent Mutations of Chromatin Remodeling Gene ARID1A in Ovarian Clear Cell Carcinoma
  Publication: Science (October 2010)
  Authors: Jones et. al.