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KaryoDAS

KaryoDAS. A DAS client using DECIPHER Data. Manuel Corpas. Down Syndrome Association of NSW. Down Syndrome. Genomic Disorders - the last 30 years. Symptoms (Phenotype) learning disability characteristic facial features congenital heart defects (30-50%) visual and hearing impairment

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KaryoDAS

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  1. KaryoDAS A DAS client using DECIPHER Data Manuel Corpas

  2. Down Syndrome Association of NSW Down Syndrome Genomic Disorders - the last 30 years • Symptoms (Phenotype) • learning disability • characteristic facial features • congenital heart defects (30-50%) • visual and hearing impairment • other health problems • severity varies greatly.

  3. Genomic Disorders ? • Symptoms (Phenotype) • learning disability • characteristic facial features • small widely spaced teeth • behavioural problems - anxiety, ADHD, overfriendliness • congenital heart disease • other health problems

  4. Patient Reference 2 1 0.5 Green Green/Red Ratio Red Comparative Genomic Hybridisation

  5. DNA Microarrays - a cytogenetic revolution

  6. Informed Consent DECIPHER DECIPHER

  7. Copy Number Interpretation Classification

  8. Trio 2539 Copy Number Interpretation Classification

  9. Deletion at 9q22.3 Feeding difficulties in the first months of life Pre- and post-natal overgrowth (weight, length, OFC > +3 SD) Psychomotor delay and hyperactivity (still unable to walk unaided at six years of age, no speech) Hypotonia, trigonocephaly, epicanthic folds, small mouth with a thin upper lip, thickened ears with ear lobule indentation, downslanting palpebral fissures, short neck, pectus excavatum, strabismus, umbilical hernia,thyroglossal cyst, advanced carpal maturation at birth and ventriculomegaly Is the de novo 9q22.3 deletion responsible for the phenotype?

  10. Similar deletion at 9q22.3 Chromosome 9 Richard Redon, Laurence Colleaux

  11. 9q22.3 deletion Syndrome Feeding difficulties in the first months of life Pre- and post-natal overgrowth (weight, length, OFC > +3 SD) Psychomotor delay and hyperactivity (still unable to walk unaided at six years of age, no speech) Hypotonia, trigonocephaly, epicanthic folds, small mouth with a thin upper lip, thickened ears with ear lobule indentation, downslanting palpebral fissures, short neck, pectus excavatum, strabismus, umbilical hernia,thyroglossal cyst, advanced carpal maturation at birth and ventriculomegaly

  12. KaryoDAS: A DAS client Visualisation Tool for DECIPHER • Selection of CNV related Souces • Integrates different scale views • Karyotype • Chromosome • Band • Zoom • Sequence • Annotation

  13. KaryoDAS Implementation Distributed Annotation System DASRegistry Registry Redon, HGNC, OMIM International Clonesets Publish Find Provide Karyotype DAS Client Genome Analysis DAS ... ... ... Client Sources Interact CromosomeType Ensembl

  14. Live Demo https://decipher.sanger.ac.uk/karyodas/display.html

  15. Acknowledgements • Rafael Jimenez • Eugene Bragin • Paul Bevan • Nigel Carter • Helen Firth

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