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Program

Confirmed Start & End Times

  • Registration Begins Monday 27th August 2018 at 08:30

  • Proposed Pre-Course Company Workshops Monday 27 August at 09:00 (to be confirmed)

  • 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.

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
9:00 AM
  • Registration
    2 hours
  • Company Workshop 1 TBA
    1.5 hours
  • Company Workshop 2 TBA
    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
  • Calling DNA variants - SNV, CNV & SV
    45 mins
12:45 PM
  • HGVS Nomenclature - describing variants
    den Dunnen, Johan T.

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

    30 mins
1:15 PM
  • Lunch
    1 hour
2:15 PM
  • Human Phenotype Ontology (HPO)
    45 mins
3:00 PM
  • Gene variant databases & sharing information
    45 mins
3:45 PM
  • Coffee Break
    30 mins
4:15 PM
  • Practical TBA 1
    1.5 hours
  • Practical TBA 2
    1.5 hours
Time
Session
Duration
Cost
8:30 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
9:15 AM
  • Viewing the Data: the Ensembl browser & its possibilities
    TBA

    Speaker from Ensembl/EBI to be announced

    45 mins
10:00 AM
  • TBA
    30 mins
10:30 AM
  • Exhibits Open & Coffee Break
    45 mins
11:15 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)
    TBA

    Speaker from Ensembl/EBI to be announced

    1.5 hours
12:45 PM
  • Lunch
    1 hour
1:45 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)
    TBA

    Speaker from Ensembl/EBI to be announced

    1.5 hours
3:15 PM
  • Exhibition Open & Poster Session 1
    45 mins
4:00 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

    Biography coming soon

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

    Speaker from Ensembl/EBI to be announced

    45 mins
10:00 AM
  • TBA
    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 between DNA a
    45 mins
12:45 PM
  • TBA
    30 mins
1:15 PM
  • Lunch
    1 hour
2:15 PM
  • UCSC Genome Browser Workshop (beginner)
    Kuhn, Robert

    Biography coming soon

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

    Biography coming soon

    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
  • NGS in Diagnostics
    45 mins
10:00 AM
  • TBA
    30 mins
10:30 AM
  • Coffee Break
    30 mins
11:00 AM
  • Prediction of variants in non-coding / or regulatory regions of the genome
    45 mins
11:45 AM
  • TBA
    45 mins
12:30 PM
  • Future Developments, Meeting Evaluation and Close
    30 mins