Dear Colleagues,

We are now accepting abstracts for the 2017 Irish Society of Human Genetics conference to be held at Croke Park, Dublin on Friday, 15th September.  
Please find the abstract submission form at this link
The deadline for the closing date for abstracts has been extended to Friday 16th June 2017.

I am also delighted to announce our plenary speakers for the conference; Agnar Helgesson from DeCode, Iceland and David Keegan of the Mater University Hospital, Dublin.

If you have any questions please don’t hesitate to contact me.

Many thanks and best wishesk,

Gianpiero Cavalleri

Secretary, ISHG

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.


The ESHG condemns move to impose obligatory genetic testing for employees in the USA.

A Bill that would allow companies to require employees to undergo genetic testing and disclose the results to their employers, or risk having to make health insurance payments of thousands of dollars extra, was recently approved by the US House of Representatives Committee on Education and the Workforce, with all 22 Republicans supporting it and all 17 Democrats opposing. 
Genetic tests can predict health risks. In the US, where companies cover significant parts of the health insurance of their employees they may, understandably, want to minimise these risks. In the past, however, decisions on whether or not to undergo genetic testing have been the voluntary choices of individuals. Both the Council of Europe and the US law (Genetic Information and Non-Discrimination Act, GINA) uphold this standpoint.

The European Society of Human Genetics (ESHG) defends the principle that employees should be employed on the basis of their skills and expertise, and not on their future health risks. This Bill has apparently been integrated into the activities related to the revision of the Affordable Care Act, otherwise known as Obama Care. Transparency is needed on the potential decision to discontinue the GINA. The genetic and health information of individuals needs protection,” said Professor Martina Cornel, chair of the ESHG Public and Professional Policy Committee.

Genetic Association Course With Application to the Analysis of Sequence and Genotype Data

June 26-30, 2017
Max Delbrück Center (MDC) for Molecular Medicine
Berlin, Germany

The eight Annual Berlin Genetic Association Course will be held at the MDC in Berlin from June 26-30, 2017. The goal of the course is to teach course participants both theory and application of methods for population based association analysis, with a concentration on the analysis of exome and whole genome sequence and genotype data.Emphasis in this course is on strategies for genetic mapping of complex human traits. It will include theory as well as practical exercises. The exercises will be carried out using a variety of computer programs (PLINK, GenABEL, MACH, UNPHASED, EIGENSTRAT, Variant Association Tools (VAT), SEQPower and R, etc.). Topics covered include: Association analysis of qualitative and quantitative traits; single marker and haplotype analysis; analysis of whole genome association study data; complex trait rare variant association analysis of next generation sequence data; data quality control for genotype and next generation sequence data; haplotype reconstruction; controlling population admixture (genomic control, principal components analysis, etc); imputing genotype data from sequence and genotype data; detecting gene x gene and gene x environmental interactions; power and sample size estimation for both genotype and rare variant data; permutation (estimating empirical p-values); and false discovery rate (FDR). The organizers and instructors for the course are Suzanne Leal (Baylor College of Medicine) and Michael Nothnagel (University of Cologne).For additional information, a course schedule and application form please visit the course website.  https://statgen.research.bcm.edu/index.php/Genassoc2017Application Deadline May 1, 2017

Complex Trait Analysis of Next Generation Sequence Data

March 6-10, 2017
Max Delbrück Center (MDC) for Molecular Medicine Berlin, Germany
The Complex Trait Analysis of Next Generation Sequence Data course will be held at the MDC in Berlin from March 6-10, 2017. The goal of the course is to teach the course participants both the theory and application of methods to analyze next generation sequence (NGS) data for human complex traits. Attendees will learn how to design studies, call variants from NGS data, analysis of population-, trio- and family-based sequence data and evaluation of variant functionality. Analyses will include performing complex trait rare variant association analysis for population and trio data. Exercises will be carried out using a variety of computer programs (GATK, IGV, Polyphen2, PSEQ, SEQPower, and Variant Association Tools (VAT)). TOPICS will be include: sequence alignment, calling variants from NGS data, quality control of NGS data, association testing framework for quantitative and qualitative traits, rare variant association methods, estimating power and sample size for rare variant association studies, imputation of rare variants and their analysis, detecting putative causal variants for complex traits and evaluating variant functionality.
The instructors for the course are Suzanne Leal (Baylor College of Medicine) and Michael Nothnagel (University of Cologne).
Application Deadline January 5, 2017

For additional information, the schedule and application form - please visit the course website:  https://statgen.research.bcm.edu/index.php/ComplexNGS2017