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Program

Confirmed Start & End Times

Registration Begins Monday 27th August 2018 at 10:00

Course Begins Monday 27th August 2018 at 11:00

Course Ends Thursday 30th August 2018 at 13:00   

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Practical Workshops

Last Program Update 10th July.  The program below is currencly being updated so please use the PDF Program!   

Delegates will be split into two groups for the practical workshops: Stream A and B.  You need to stay in your group throughout the Course.   

Delegates must bring their own laptop to participate in the course.

Penultimate Program -10 July 2018

This program may undergo some minor changes.

  • Streams
  • STREAM A
  • STREAM B
Time
Session
Duration
Cost
10:00 AM
  • Registration
    1 hour
11:00 AM
  • Welcome & Introduction
    den Dunnen, Johan T.

    Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More

    15 mins
11:15 AM
  • Variants in the genome, position and possible consequences
    den Dunnen, Johan T.

    Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More

    45 mins
12:00 PM
  • Calling DNA variants using different tools
    Sethi, Raman

    Raman Sethi (Research Associate, National University of Singapore):  Raman Sethi is a... More

    45 mins
12:45 PM
  • Lunch
    1.25 hours
2:00 PM
  • General databases: OMIM, dbSNP, gnomAD (ExAC) etc.
    Kuhn, Robert

    Associate Director UCSC Genome Browser UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA... More

    45 mins
2:45 PM
  • HGVS Nomenclature Workshop
    den Dunnen, Johan T.

    Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More

    1.25 hours
4:00 PM
  • Coffee Break
    30 mins
4:30 PM
  • Human Phenotype Ontology (HPO) Workshop
    Benet-Pages, Anna

    Anna is head of the Development and Technology Transfer department at the Munich Medical... More

    den Dunnen, Johan T.

    Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More

    1.5 hours
Time
Session
Duration
Cost
8:30 AM
  • Gene Variant Databases (LSDBs): HGMD, LOVD, ClinVar etc.
    den Dunnen, Johan T.

    Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More

    30 mins
9:00 AM
  • Variant Classification: ACMG recommendations
    Benet-Pages, Anna

    Anna is head of the Development and Technology Transfer department at the Munich Medical... More

    Laner, Andreas

    Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More

    45 mins
9:45 AM
  • Viewing the Data: the Ensembl browser & its possibilities
    Moore, Benjamin

    Ensembl Outreach Officer - Yates team: Genomics Technology Infrastructure Ben joined Ensembl as... More

    45 mins
10:30 AM
  • Presentation from Agilent
    15 mins
10:45 AM
  • Coffee Break
    45 mins
11:30 AM
  • Variant Interpretation using ACMG Guidelines Workshop
    Benet-Pages, Anna

    Anna is head of the Development and Technology Transfer department at the Munich Medical... More

    Laner, Andreas

    Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More

    1.5 hours
  • Ensembl Genome Browser Workshop
    Moore, Benjamin

    Ensembl Outreach Officer - Yates team: Genomics Technology Infrastructure Ben joined Ensembl as... More

    1.5 hours
1:00 PM
  • Lunch
    1.25 hours
2:15 PM
  • Ensembl Genome Browser Workshop
    Moore, Benjamin

    Ensembl Outreach Officer - Yates team: Genomics Technology Infrastructure Ben joined Ensembl as... More

    1.5 hours
  • LOVD+ Demonstration
    den Dunnen, Johan T.

    Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More

    1.5 hours
3:45 PM
  • Coffee Break & Poster Session
    45 mins
4:00 PM
  • Variant Interpretation using ACMG Guidelines Workshop
    Benet-Pages, Anna

    Anna is head of the Development and Technology Transfer department at the Munich Medical... More

    Laner, Andreas

    Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More

    2 hours
4:30 PM
  • LOVD+ Demonstration
    den Dunnen, Johan T.

    Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More

    1.5 hours
Time
Session
Duration
Cost
8:30 AM
  • Viewing the Data: the UCSC browser and its possibilities
    Kuhn, Robert

    Associate Director UCSC Genome Browser UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA... More

    45 mins
9:15 AM
  • Variant Annotation (VEP)
    Moore, Benjamin

    Ensembl Outreach Officer - Yates team: Genomics Technology Infrastructure Ben joined Ensembl as... More

    45 mins
10:00 AM
  • Copy Number Variation Detection from Exon Capture Data
    Benet-Pages, Anna

    Anna is head of the Development and Technology Transfer department at the Munich Medical... More

    30 mins
10:30 AM
  • Assemble for Group Photograph

    Go to "Newcastle University Medicine Malaysia" Arch at Bells Court.

    15 mins
10:45 AM
  • Coffee Break
    30 mins
11:15 AM
  • Potential Consequences on the RNA Level & using prediction tools
    Laner, Andreas

    Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More

    45 mins
12:00 PM
  • Potential Consequences on Protein Level & using prediction tools
    Lai, Poh San

    Appointment(s):  Associate Professor, Department of Paediatrics Administrative... More

    45 mins
12:45 PM
  • Lunch
    1.25 hours
2:00 PM
  • UCSC Genome Browser Workshop
    Kuhn, Robert

    Associate Director UCSC Genome Browser UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA... More

    1.5 hours
  • Variant Annotation using VEP Workshop
    Moore, Benjamin

    Ensembl Outreach Officer - Yates team: Genomics Technology Infrastructure Ben joined Ensembl as... More

    1.5 hours
3:30 PM
  • Coffee Break
    45 mins
4:15 PM
  • UCSC Genome Browser Workshop
    Kuhn, Robert

    Associate Director UCSC Genome Browser UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA... More

    1.5 hours
  • Variant Annotation using VEP Workshop
    Moore, Benjamin

    Ensembl Outreach Officer - Yates team: Genomics Technology Infrastructure Ben joined Ensembl as... More

    1.5 hours
Time
Session
Duration
Cost
8:30 AM
  • Options for functional testing of candidate variants
    Reversade, Bruno

    Trained at the Pasteur Institute in Paris, Bruno Reversade obtained his Ph.D. from the... More

    45 mins
9:15 AM
  • UCSC Variant Annotation Integrator
    Kuhn, Robert

    Associate Director UCSC Genome Browser UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA... More

    45 mins
10:00 AM
  • NGS in diagnostics: where things can go wrong
    Laner, Andreas

    Andreas Laner, PhD Head of Genomics Program Areas of Specialization Genetics of hereditary... More

    30 mins
10:30 AM
  • Coffee Break
    30 mins
11:00 AM
  • Setting up diagnostic NGS application in Malaysia
    bin Alwi, Zilfalil

    Zilfalil bin Alwi started his medical career as a medical officer in 1991 after completing his... More

    45 mins
11:45 AM
  • Future Developments
    den Dunnen, Johan T.

    Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same... More

    30 mins
12:15 PM
  • Q & A, Course Evaluation & Close
    45 mins