Identifying Genes for Mendelian Traits using Next Generation Sequence Data

September 18-22, 2017
MaxDelbrück Center (MDC) for Molecular Medicine
Berlin ,Germany

The Identifying Genes for Mendelian Traits using Next Generation Sequence Data Course will be held at the MDC inBerlin from September 18-22, 2017. The goal of the course is to teach the course participants both theory and application of methods to identify pathogenic variants/genes for Mendelian diseases/traits using filtering methods, homozygosity mapping and linkage analysis.
Emphasis in this course is on strategies for gene mapping and variant/gene identification for Mendelian Traits. It will include theory as well as practical exercises. The exercises will be carried out using a variety of computer programs (e.g. Gemini, GeneHunter, GERP, Homozygosity Mapper, Integrative Genome Viewer, MERLIN, PhlyoP, Polyphen, SEQLinkage, Variant Mendelian Tools,).  Topics which will be covered at the course include: study design; linkage analysis and homozygosity mapping using genotype array and next generation sequence data (exome and whole genome), haplotype reconstruction, evaluating pedigree informativeness and power to detect linkage, vcf file annotation; generation of NGS data; identification of causal variants using filter approaches, variant annotation, evaluation of deleterious effects of variants and their functionality. The organizers and instructors for the course are  Suzanne Leal (Baylor College of Medicine) and  Michael Nothnagel (University ofCologne).

Application Deadline June 12st, 2017
For a schedule, application form and additional information please visit the course webpage.