Gene Sequencing & Haplotyping

Whereas conventional approaches for targeted sequencing are hypothesis-driven, largely miss intronic genetic variation, and will fail to identify a large share of structural variants, the TLA technology enables hypothesis-neutral complete sequencing of any genomic locus. 

TLA thus enables the identification of all genetic variation in loci of interest.

In addition, TLA enables haplotyping across large physical distances, both with short- and long-read sequencing technologies.

The TLA technology is highly flexible. Any genomic region of interest can be sequenced by simply using one primer pair complementary to a short locus-specific sequence.

• Application notes
• 
  Application note on the TLA protocol for isolated genomic DNA.

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  Application Note Pacific Biosciences - Targeted Sequencing and Chromosomal Haplotype Assembly Using Cergentis TLA Technology with PacBio SMRT Sequencing.

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• Publications
• 
  ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder

  Cosemans N, et al.  (2018)                                                                                                                             

  University Hospital Leuven, Rady Children's Hospital & Leuven Autism Research                                                                                                                                                                    

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  Remapping of the belted phenotype in cattle on BTA3 identifies a multiplication event as the candidate causal mutation

  Rothammer S et al. (2018)                                                                                                                             

  LMU Munich & The L.K. Ernst Institute of Animal Husbandry           

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  Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping

  Vermeulen C et al. (2017)                                                                                                                             

  Cergentis, Hubrecht Institute-KNAW, Kariminejad-Najmabadi Pathology & Genetics Center, National and Kapodistrian University of Athens, Sara Medical Genetics Lab, Shahid Beheshti University of Medical Sciences, University Medical Center Utrecht & University of Patras

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  Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

  Van Schil et al. (2017)                                                                                                                             

  Ghent University, Harvard Medical School, Seattle Children's Research Institute, The Children's Hospital of Philadelphia, University of Cologne, University of Tuebingen, University of Washington School of Medicine

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  Targeted Locus Amplification and Next-Generation Sequencing

  Hottentot QP et al.  (2016)                                                                                                                             

  Cergentis & Leiden University Medical Center                                                                                                                                                                        

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  Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome

  Van der Werf IM et al.  (2016)                                                                                                                             

  Ghent University Hospital, Greenwood Genetic Center, Heinrich-Heine University, University Antwerpen & University Duisburg-Essen

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  mTORC1 Inhibition Corrects Neurodevelopmental and Synaptic Alterations in a Human Stem Cell Model of Tuberous Sclerosis

  Costa V et al.  (2016)                                                                                                                             

  Roche, Pvalue Research SRL, University of Basel, University Hospital Basel & University of Zurich

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  Haplotype-resolved genome sequencing: experimental methods and applications

  Snyder MW et al.  (2015)                                                                                                                             

  University of Washington, Oregon Health & Sciences University & University of Michigan

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  Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping

  De Vree PJP et al.  (2014)                                                                                                                             

  Cergentis, Erasmus Medical Center, Ghent University, Hubrecht Institute-KNAW, Leiden University Medical Center, The Netherlands Cancer Institute, Radboud University Medical Center, University of Amsterdam, University of Groningen, University Medical Center Utrecht & VIB