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