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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

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

ACMG Workshop - We encourage you to bring your difficult to classify variants with you to work on during the workshop.

HGVS Nomenclature Workshop - We encourage you to bring any variants you are having trouble naming with you to the workshop.

HPO Workshop - If you are unclear about how to describe a phenotype using HPO, bring it with you to the workshop.

The experts are there to help you throughout the Course, please make time to meet with them.

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

Penultimate Program - 8th August 2018

This program may undergo some very minor changes.

  • Streams
  • STREAM A
  • STREAM B
Time
Session
Duration
Cost
10:00 AM
  • Registration
    1 hour
11:00 AM
  • Welcome & Introduction

    PLENARY SESSION 1: Iskandar Demonstration Theatre

    15 mins
11:15 AM
  • Variants in the genome, position and possible consequences

    PLENARY SESSION 1: Iskandar Demonstration Theatre

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

    PLENARY SESSION 1: Iskandar Demonstration Theatre

    45 mins
12:45 PM
  • Lunch

    Fame Cafe

    1.25 hours
2:00 PM
  • General databases: OMIM, dbSNP, gnomAD (ExAC) etc.

    PLENARY SESSION 2: Iskandar Demonstration Theatre

    45 mins
2:45 PM
  • HGVS Nomenclature Workshop

    PLENARY SESSION 2: Iskandar Demonstration Theatre

    1.25 hours
4:00 PM
  • Coffee Break

    Fame Cafe

    30 mins
4:30 PM
  • Human Phenotype Ontology (HPO) Workshop

    PLENARY SESSION 3: Iskandar Demonstration Theatre

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

    PLENARY SESSION 4: Iskandar Demonstration Theatre

    30 mins
9:00 AM
  • Variant Classification: ACMG recommendations

    PLENARY SESSION 4: Iskandar Demonstration Theatre

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

    PLENARY SESSION 4: Iskandar Demonstration Theatre

    45 mins
10:30 AM
  • Coffee Break

    Fame Cafe

    30 mins
11:00 AM
  • Samples to answer: Developing a cost-effective and robust targeted NGS workflow

    PLENARY SESSION 5: Iskandar Demonstration Theatre

    Presentation from Agilent Technologies.

    Agilent Technologies Singapore is a sponsor of the 3rd Variant Effect Prediction Training Course

    30 mins
11:30 AM
  • Variant Interpretation using ACMG Guidelines Workshop

    IT Cluster 1

    1.5 hours
  • Ensembl Genome Browser Workshop

    IT Cluster 2

    1.5 hours
1:00 PM
  • Lunch

    Fame Cafe

    1.25 hours
2:15 PM
  • Ensembl Genome Browser Workshop

    IT Cluster 2

    1.5 hours
  • LOVD+ Demonstration

    IT Cluster 1

    1.5 hours
3:45 PM
  • Coffee Break & Poster Session 1

    Fame Cafe

    45 mins
4:00 PM
  • Variant Interpretation using ACMG Guidelines Workshop

    IT Cluster 2

    2 hours
4:30 PM
  • LOVD+ Demonstration

    IT Cluster 1

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

    PLENARY SESSION 6: Iskandar Demonstration Theatre

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

    PLENARY SESSION 6: Iskandar Demonstration Theatre

    45 mins
10:00 AM
  • Copy Number Variation Detection from Exon Capture Data

    PLENARY SESSION 6: Iskandar Demonstration Theatre

    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

    Fame Cafe

    30 mins
11:15 AM
  • Potential Consequences on the RNA Level & using prediction tools

    PLENARY SESSION 7: Iskandar Demonstration Theatre

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

    PLENARY SESSION 7: Iskandar Demonstration Theatre

    45 mins
12:45 PM
  • Lunch

    Fame Cafe

    1.25 hours
2:00 PM
  • UCSC Genome Browser Workshop

    IT Cluster 1

    1.5 hours
  • Variant Annotation using VEP Workshop

    IT Cluster 2

    1.5 hours
3:30 PM
  • Coffee Break & Poster Session 2

    Fame Cafe

    45 mins
4:15 PM
  • UCSC Genome Browser Workshop

    IT Cluster 1

    1.5 hours
  • Variant Annotation using VEP Workshop

    IT Cluster 2

    1.5 hours
Time
Session
Duration
Cost
8:30 AM
  • Functional Testing from lab tests to animal models

    PLENARY SESSION 8: Iskandar Demonstration Theatre

    20 mins
8:50 AM
  • UCSC Variant Annotation Integrator

    PLENARY SESSION 8: Iskandar Demonstration Theatre

    45 mins
9:35 AM
  • NGS in diagnostics: where things can go wrong

    PLENARY SESSION 8: Iskandar Demonstration Theatre

    55 mins
10:30 AM
  • Coffee Break

    Fame Cafe

    30 mins
11:00 AM
  • Setting up diagnostic NGS application in Malaysia

    PLENARY SESSION 9: Iskandar Demonstration Theatre

    45 mins
11:45 AM
  • Future Developments

    PLENARY SESSION 9: Iskandar Demonstration Theatre

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

    PLENARY SESSION 9: Iskandar Demonstration Theatre

    45 mins