Databases in Clinical Genetics 2019

Lecture on Databases in Use in Clinical Genetics for Medical School Lecture 2019

Transcript

1. Databases in Clinical Genetics Andreas Zankl MD FMH FRACP PGCert Bioinformatics Professor of Medical Genetics The University of Sydney
2. why databases? 8’000 genetic disorders 20’000 genes
3. Victor McKusick, 1921-2008
4. Mendelian Inheritance in Man (MIM)
5. Feb 2019: 24’900
7. PubMed grows by >1 publication per minute
9. Outline • find out more about a specific disorder • find out more about a gene • find a syndrome based on its features
10. Learn more about a specific disorder
12. OMIM http://omim.org/
13. OMIM http://omim.org/
16. https://elementsofmorphology.nih.gov Elements of Morphology
17. https://elementsofmorphology.nih.gov Elements of Morphology
18. OMIM http://omim.org/
19. GeneReviews genereviews.org
20. http://www.rarechromo.org/
21. PubMed http://www.ncbi.nlm.nih.gov/pubmed \
22. http://biorxiv.org
23. Google it!
24. learn more about a gene
26. OMIM http://omim.org/
27. GeneCards http://genecards.org/
28. UCSC Genome Browser • u http://genome.ucsc.edu/
29. find a syndrome based on its features
30. • Down-slanting palpebral fissures • Malar hypoplasia • Mandibular hypoplasia • Hearing Loss
34. POSSUM http://www.possum.net.au/
35. London Dysmorphology Database (LDDB) http://suite.face2gene.com/lmd-library-london-medical-database-dysmorphology/
36. http://www.fdna.com
37. Face2Gene • automatic detection of dysmorphic features from photographs
38. Face2Gene • suggests matching syndromes
39. Face2Gene • provides information from the London Dysmorphology Database
40. Face2Gene • Learn how to identify dysmorphic features
41. A glimpse in the future…
42. Artificial Intelligence 2011: IBM Watson wins the Jeopardy Grand Challenge
46. Nature. 2017 Feb 2;542(7639):115-118. doi: 10.1038/nature21056
47. https://doi.org/10.1148/radiol.2017170236
48. PLoS ONE 2012, 7:e50614.
50. https://tinyurl.com/usyd-genetics-2019