Accurate Identification of de novo structural variants in a trio using a reference agnostic, rapidly queryable format to reduce the proportion of unsolved cases


There remain a considerable number of unsolved cases of rare disorders. Generally, current methods focus on smaller genetic changes (SNVs and indels). Accurately detecting structural genetic changes (SVs) that are de novo in a... [ view full abstract ]


  1. Lisa Herta (Fabric Genomics, Inc.)
  2. Niranjan Shekar (Fabric Genomics, Inc.)
  3. William J. Salerno (Baylor College of Medicine / Human Genome Sequencing Center)
  4. Adam English (Fabric Genomics, Inc.)
  5. Catherine A. Brownstein (Boston Children's Hospital)
  6. Joseph Gonzalez-heydrich (Boston Children's Hospital)
  7. Adina Mangubat (Fabric Genomics, Inc.)
  8. Jeremy Bruestle (Fabric Genomics, Inc.)
  9. Eric Boerwinkle (University of Texas Health Science Center)
  10. Richard A. Gibbs (Baylor College of Medicine / Human Genome Sequencing Center)

Topic Areas

Comparative genomics, re-sequencing, SNPs, structural variation , Bringing sequence to the clinic (i.e., diagnostics, cancer, inherited disorders) , Gene editing, synthetic genomics, forensics, and biosurveillance


OS-2 » Human Genomic Applications (13:00 - Tuesday, 16th May, La Fonda Ballroom)

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