Exploring the functional consequences
of genomic variation
2nd November 2010
Washington DC
United States
A Satellite meeting to The American Society of Human Genetics' Annual Meeting
| The PROGRAM is now available here |
It is with great pleasure, on behalf of the Human Genome Variation Society that we extend a warm invitation to our conference. This is a 1 day comprehensive Conference that will once again satellite The American Society of Human Genetics Annual Meeting in Washington DC.

This meeting will take place at the Grand Hyatt Washington, the ASHG Headquarters hotel. We encourage you to participate by registering and submitting your abstract for an oral or poster presentation, or simply join us to meet others. So, come along and immerse yourself in, not only an educational meeting, but also a warm and friendly meeting.
Exploring the functional consequences of genomic variation
The advent of “Next Generation Sequencing" technologies in the last 5 years has resulted in a massive expansion of sequence that needs to be analyzed. A major goal of these experiments is to identify polymorphisms and new mutations. A critical challenge is to determine which genetic variants are pathogenic, which are neutral, and which may have intermediate effects. This task is becoming more urgent as whole genome sequencing becomes more accessible to investigators. This meeting will feature the efforts that are underway to try to classify all classes of variants- those that are found in coding regions and alter protein sequence, those that affect splicing, gene expression, and copy number, or those that occur at a distance from the disease-associated gene.
List of Invited Speakers
| Marjolijn Ligtenberg | Radboud University Nijmegen Medical Centre, The Netherlands | EPCAM deletions and control of MSH2 expression in Lynch syndrome |
| Elliott H Margulies | Head, Genome Informatics Section, NHGRI | Whole genome sequencing and analysis: minimizing false positives and characterizing non-coding variants. |
| Stephan Sanders | Assistant Professor, Dept. of Physiology and Biophysics and the Institute for Computational Biomedicine, Weill Cornell Medical College of Cornell University | Detecting, Annotating, and Cataloging Variants |
| Daniel Gaffney | Dept. of Human Genetics, Univ. of Chicago | Fine mapping QTL and functional context |
Reports of previous meetings
Reports of past meetings in the series can be found on the HGVS meeting reports webpage.
Abstracts
The Human Genome Variation Society invites submissions of abstracts. There will be two classes of abstracts, those for "Exploring the functional consequences of genomic variation" and those on general human genome variation. You are welcome to attend the meeting without submitting an abstract. Only those registering are able to submit abstracts.
Details
Room "Constitution AB"
Grand Hyatt Washington
1000 H Street NW
Washington DC, USA
Registration: 7.30 am - 8.30 am
Meeting Start: 8.30 am
Meeting End: 6.00 pm
Registration Fees
All costs in United States Dollars ($).
A SEPERATE REGISTRATION FEE WILL BE CHARGED TO THE ASHG MEETING AS THIS IS A DIFFERENT MEETING. The Fee includes administrative costs, coffee breaks & lunch.
Please note, the Earlybird fees are set lower than the actual cost per person to attend the meeting, therefore if you are late in registering you will have to pay the higher fees - THERE WILL BE NO EXCEPTIONS.
| All costs in United States Dollars ($) | |||
|---|---|---|---|
| Category | HGVS Member |
Non-HGVS Member | All Students |
| Earlybird - until 30th Sept. 2010 | 110 | 140 | 110 |
| Regular- from 1st Oct. - 31st Oct. 2010 | 140 | 160 | 140 |
| LATE - from 1st Nov. 2010 & Onsite | 180 | 180 | 180 |
Accommodation & Travel
If you are attending the ASHG meeting you should use the Accommodation booking service of that meeting as we will NOT be arranging any accommodation.
Travel details may be found here:
