[BBC] NBIC NGS Exome Sequencing & Variant Calling course

[Patrick Koks]

*NBIC NGS Exome Sequencing & Variant Calling course*

Title: “*Genomic resequencing: variant detection and interpretation in a
diagnostic context*”
Date: April 4-5th 2012
Organisers: NBIC, LUMC, UMC Radboud and CGD
Venue: Radboud UMC Nijmegen (exact locations will be communicated in
invitation)
Website:
http://www.nbic.nl/education/course-overview/coursedetails/genomic-resequencing-variant-detection-and-interpretation-in-a-diagnostic-context/
Registration:
http://www.nbic.nl/education/nbic-phd-school/enrolment/Application_Genomic_resequencing
Course language: English

*Targeted audience:*
This course is intended for researchers and (molecular) clinical
specialists working in a diagnostic setting, who apply or are planning to
apply next generation sequencing for the genetic diagnosis of patients.
This is an expert course for people with experience in (NGS) data analysis
and/or application of diagnostic tools in the clinic.

*Description:*
The NGS Genomic Resequencing/Variant Calling course is a 2-day expert
application course that extends upon the 3-day basic Next-Gen Seqencing
data analysis course, although this course is not a prerequisite. A short
introduction in the techniques for genomic Next Generation Sequencing
(hardware) and sample preparation (wet lab and statistical design) will be
followed by lectures and practicals (software) on analysis of raw and
aggregated data and interpretation, all with a diagnostic emphasis.
Furthermore there will be room for discussion on the interaction between
bioinformaticians and clinicians and mutual expectations, implications of
NGS on diagnostics, ethics and data sharing.
Where possible real data will be used in hands-on software application
tutorials, otherwise in demo’s.

*Topics include:*
• Lab methods in NGS for data acquisition and design of experiments,
• Mapping of sequence reads,
• Variant Calling,
• Quality Control,
• Annotation of Variants and Visualisation,
• Computational Predictions,
• Evaluation and Reporting of results, specifically within a diagnostic
context

*NBIC BioWise LS*
This course is part of the NBIC BioWise Life Sciences (LS) programme that
offers bioinformatics courses for researchers in the life sciences. This
genomic resequencing and variant detection course is part of a cycle of
courses covering the topic of Next Generation Sequencing. On top of the
Next Generation Sequencing Data Analysis basic course, that was organised
together with the LUMC for the 5th time in 2011 (
http://www.nbic.nl/education/course-overview/archive/pages3/1/coursedetails/next-generation-sequencing-ngs-data-analysis-5th-edition/)
and will be organised again in fall 2012, we are now developing a set of 4
advanced application courses. The RNAseq course in Amsterdam in august 2011
was the 1st of this set and further advanced courses on Metagenomics and de
novo assembly using NGS data are being developed right now.
More information about the Biowise LS programme can be found at
http://www.nbic.nl/education/biowise/ and at
http://www.nbic.nl/education/course-overview/ for a complete overview of
bioinformatics courses organised in the Netherlands.

*For further enquiries, please contact Patrick Koks (NBIC BioWise) at
education at nbic.nl.*

=============
Patrick Koks, NBIC BioWise – Education
Tuesday – Wednesday - Thursday
tel. #31-(0)24-3619502
e-mail: Patrick.koks at nbic.nl
web: www.nbic.nl, www.ebiomics.org

Postal Address:
CMBI 260
Radboud University / UMC / NCMLS
PO Box 9101, 6500 HB Nijmegen, The Netherlands

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