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Program

Confirmed Start & End Times

Registration Begins Monday 27th August 2018 at 09:30

Course Begins Monday 27th August 2018 at 11:00

Course Ends Thursday 30th August 2018 at 13:00   

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Practical Workshops

All practicals are repeated once so you may attend most of them. Ensembl and UCSC Browser workshops are provided as either beginners or advanced workshops.  There are some workshops still to be decided and listed as TBA in the Program, we hope to fill these soon.  You can see the full program from last year's Course at the link on the bottom of the page FYI.

Draft Program - 8 Feb 2018

This program is subject to re-arranging, additions and subtractions.

  • Streams
  • Iskandar Demonstration Theatre
  • Seminar Room 2.2
  • Seminar Room 2.3
Time
Session
Duration
Cost
9:30 AM
  • Registration
    1.5 hours
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 consequence
    45 mins
12:00 PM
  • Limitations from Sequencing Technologies: Calling DNA variants - SNV, CNV & SV
    45 mins
12:45 PM
  • Lunch
    1.25 hours
2:00 PM
  • Limitations from Seq. Technologies: general dbs, OMIM, dbSNP, ExAC etc
    Kuhn, Robert

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

    45 mins
2:45 PM
  • Human Phenotype Ontology (HPO)
    45 mins
3:30 PM
  • DNA Variants, Phenotypes & Databases: HGMS, LOVD, ClinVar etc & the Importance of Sharing Information
    den Dunnen, Johan T.

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

    30 mins
4:00 PM
  • Coffee Break
    30 mins
4:30 PM
  • HGVS, HPO & Submitting Data Workshop
    den Dunnen, Johan T.

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

    1.5 hours
  • Practical TBA 1
    1.5 hours
  • Practical TBA 2
    1.5 hours
Time
Session
Duration
Cost
8:30 AM
  • HGVS Nomenclature - describing variants
    den Dunnen, Johan T.

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

    45 mins
9:15 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
10:00 AM
  • Viewing the Data: the Ensembl browser & its possibilities
    30 mins
10:30 AM
  • Presentation from Agilent
    15 mins
10:45 AM
  • Exhibits Open & Coffee Break
    45 mins
11:30 AM
  • Variant Interpretation using ACMG Guidelines
    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 (beginners)
    1.5 hours
1:00 PM
  • Lunch
    1.25 hours
2:15 PM
  • Variant Interpretation Using ACMG Guidelines
    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 (advanced)
    1.5 hours
3:45 PM
  • Exhibition Open & Poster Session 1
    45 mins
4:30 PM
  • HGVS, HPO & Submitting Data Workshop
    den Dunnen, Johan T.

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

    1.5 hours
  • Practical TBA 1
    1.5 hours
  • Practical TBA 2
    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)
    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
  • Exhibition Open & Poster Session 2
    45 mins
11:15 AM
  • Potential Consequences on the RNA Level
    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 & tools that bridge the evaluation of the consequences of variants b/t DNA & Pro
    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 (beginner)
    Kuhn, Robert

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

    1.5 hours
  • Practical TBA 3
    1.5 hours
  • Practical TBA 4
    1.5 hours
3:30 PM
  • Exhibits Open & Coffee Break
    45 mins
4:15 PM
  • UCSC Genome Browser Workshop (advanced)
    Kuhn, Robert

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

    1.5 hours
  • Practical TBA 3
    1.5 hours
  • Practical TBA 4
    1.5 hours
Time
Session
Duration
Cost
8:30 AM
  • Functional Testing: lab tests, animal models …
    45 mins
9:15 AM
  • Cancer Variant Curation Best Practice for Clinical Reporting
    45 mins
10:00 AM
  • TBA
    30 mins
10:30 AM
  • Coffee Break
    30 mins
11:00 AM
  • Prediction Tools RNA & Protein
    45 mins
11:45 AM
  • 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
12:30 PM
  • Future Developments, Meeting Evaluation and Close
    30 mins