HVP:, Newcastle University Medicine Malaysia
27 - 30 August 2018
The 3rd Variant Effect Prediction Course (VEPTC) will be held in Malaysia from 27 - 30 August 2018 at the Newcastle University School of Medicine, near Johor Bahru. This city is located just 25km from Singapore so is easily accessed. Much has changed in the last 20 years: the NGS revolution has shifted our focus from technologies for detecting variants in DNA to the evaluation of the possible consequences of sequence variants. Consequently, we shifted the focus of the 3rd VEPTC to Variant Effect Prediction, or "everything that [we] can do to help decide whether a variant has deleterious consequences or not”. The course will be grouped into plenary sessions, and the lectures given by experts from universities, research institutes, private diagnostic laboratories, and biotech companies. The sessions will be interspersed by presentations from a few selected abstracts and Concurrent Practicals. The field of genetic diagnostics will continue to change, at least as swiftly as it has in the last decade. Continued development depends on the continuing education and training of professionals and beginners alike. Based on participant feedback and our inspired discussions during the course and at evening events we will once again host this educational event.
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Invited Speakers:
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Johan T. den Dunnen (LUMC, Leiden) CHAIR Anna Benet-Pages (MGZ, Munich) Andrew Fellowes (PeterMac, Melbourne) Robert Kuhn (UCSC, San Francisco) Andreas Laner (MGZ, Munich Poh San Lai (NUS, Singapore) TBA (EBI, Hinxton) Others TBA… Topics: - Variants in the genome, position & possible consequences
- Limitations from seq. technologies calling DNA Variants - SNV, CNV, SV
- HGVS Nomenclature; describing variants
- Human Phenotype Ontology (HPO) - describing phenotypes
- DNA variants: phenotypes & databases - OMIM, dbSNP, ExAC,
- HGMD, LOVD, ClinVar etc., data sharing.
- Variant Classification: ACMG recommendations
- Viewing the Data: Ensembl
- Viewing the Data: UCSC
- Variant Annotation using VEP
- Potential Consequences: on the RNA & Protein Level
- Prediction Tools: RNA & Protein
- Functional Testing: lab tests, animal models ...
- Genome Browsers: Ensembl & UCSC
- Future Developments
- & more...
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