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Databases in Clinical Genetics 2019
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Andreas Zankl
March 01, 2019
Science
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Databases in Clinical Genetics 2019
Lecture on Databases in Use in Clinical Genetics for Medical School Lecture 2019
Andreas Zankl
March 01, 2019
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Transcript
Databases in Clinical Genetics Andreas Zankl MD FMH FRACP PGCert
Bioinformatics Professor of Medical Genetics The University of Sydney
why databases? 8’000 genetic disorders 20’000 genes
Victor McKusick, 1921-2008
Mendelian Inheritance in Man (MIM)
Feb 2019: 24’900
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PubMed grows by >1 publication per minute
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Outline • find out more about a specific disorder •
find out more about a gene • find a syndrome based on its features
Learn more about a specific disorder
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OMIM http://omim.org/
OMIM http://omim.org/
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https://elementsofmorphology.nih.gov Elements of Morphology
https://elementsofmorphology.nih.gov Elements of Morphology
OMIM http://omim.org/
GeneReviews genereviews.org
http://www.rarechromo.org/
PubMed http://www.ncbi.nlm.nih.gov/pubmed \
http://biorxiv.org
Google it!
learn more about a gene
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OMIM http://omim.org/
GeneCards http://genecards.org/
UCSC Genome Browser • u http://genome.ucsc.edu/
find a syndrome based on its features
• Down-slanting palpebral fissures • Malar hypoplasia • Mandibular hypoplasia
• Hearing Loss
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None
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POSSUM http://www.possum.net.au/
London Dysmorphology Database (LDDB) http://suite.face2gene.com/lmd-library-london-medical-database-dysmorphology/
http://www.fdna.com
Face2Gene • automatic detection of dysmorphic features from photographs
Face2Gene • suggests matching syndromes
Face2Gene • provides information from the London Dysmorphology Database
Face2Gene • Learn how to identify dysmorphic features
A glimpse in the future…
Artificial Intelligence 2011: IBM Watson wins the Jeopardy Grand Challenge
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None
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Nature. 2017 Feb 2;542(7639):115-118. doi: 10.1038/nature21056
https://doi.org/10.1148/radiol.2017170236
PLoS ONE 2012, 7:e50614.
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https://tinyurl.com/usyd-genetics-2019