Dear Colleagues
The programme for the 2017 ISHG meeting to be held at Croke Park on Friday September 15th is available here.
A reminder that early bird rates are available up to 28th August.
Gianpiero Cavalleri
Secretary, ISHG
2017 Irish Society of Human Genetics conference: Register online!
Dear Colleagues,
Registration is now open for the 2017 Irish Society of Human Genetics conference to be held at Croke Park, Dublin on Friday, 15th September.
Registration for the 2017 meeting includes 1 years ISHG membership.
Pricing is as follows:
• Standard rate (after 28th August): 60 euro
• Reduced rate (available to students or those with no taxable income): 40 euro
You can also avail of joint ISHG and ESHG membership (1 year):
• Standard rate (after 28th August): 115 euro
• Reduced rate (available to students or those with no taxable income): 95 euro.
There are 2 ways to register:
1) Complete registration and payment details via the online system
OR
2) Complete the registration link and send it, together with payment details, to the ISHG Secretary.
Forms can be submitted via email or land mail (details are contained in the form).
Note the deadline for abstracts has now passed. Any queries regarding late submissions should be directed to ISHG_Secretary@rcsi.ie .
If you have any questions please don’t hesitate to contact me.
Many thanks and best wishes,
Gianpiero Cavalleri Secretary, ISHG
Registration is now open for the 2017 Irish Society of Human Genetics conference to be held at Croke Park, Dublin on Friday, 15th September.
Registration for the 2017 meeting includes 1 years ISHG membership.
Pricing is as follows:
• Standard rate (after 28th August): 60 euro
• Reduced rate (available to students or those with no taxable income): 40 euro
You can also avail of joint ISHG and ESHG membership (1 year):
• Standard rate (after 28th August): 115 euro
• Reduced rate (available to students or those with no taxable income): 95 euro.
There are 2 ways to register:
1) Complete registration and payment details via the online system
OR
2) Complete the registration link and send it, together with payment details, to the ISHG Secretary.
Forms can be submitted via email or land mail (details are contained in the form).
Note the deadline for abstracts has now passed. Any queries regarding late submissions should be directed to ISHG_Secretary@rcsi.ie .
If you have any questions please don’t hesitate to contact me.
Many thanks and best wishes,
Gianpiero Cavalleri Secretary, ISHG
2017 Irish Society of Human Genetics conference: abstract submissions
Dear Colleagues,
Registration is now open for the 2017 Irish Society of Human Genetics conference to be held at Croke Park, Dublin on Friday, 15th September.
The deadline for abstracts has now passed. Any queries regarding late submissions should be directed to ISHG_Secretary@rcsi.ie
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
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
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
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