*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-resequenc... Registration: http://www.nbic.nl/education/nbic-phd-school/enrolment/Application_Genomic_r... 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/...) 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@nbic.nl.* ============= Patrick Koks, NBIC BioWise – Education Tuesday – Wednesday - Thursday tel. #31-(0)24-3619502 e-mail: Patrick.koks@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 Please consider the environment before printing this e-mail