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Germline and Somatic Mosaicism

Saturday, 18 October 2014 from 8:30 AM - 4:00 PM

Embassy Suites San Diego Bay Downtown, San Diego, United States


Germline & Somatic Mosaicism

Saturday 18th October 2014

 San Diego, CA, USA

Event immediately prior to the ASHG meeting


As genetic sequencing technologies continue to improve, researchers are progressively unraveling the causes and effects of germline and somatic mosaicism and its impact in cancer and other diseases. However, many questions remain only partially answered including the evolution, prevalence and distribution of somatic differences in normal tissues and how these differences lead toward neoplastic progression and aging.

In this meeting, we will focus on the technologies that enable analysis of somatic genetic differences, efforts to characterize their distribution, their association with human disease and clinical interpretation. Technologies to be presented include single cell sequencing and the computational approaches that support the field. Talks will likely include geneticists, informaticians, clinicians and technology developers. Both invited research leaders and submitted abstracts competitively selected for speaking presentations will be presented.



Scientific Programme Committee   

  • Sean Mooney
  • Marc Greenblatt
  • Rachel Karchin
  • Heidi Rehm 
  • Anthony Brookes
  • Alastair Brown


Invited Speakers

  • Paul Flicek -  EBI, Hinxton - "Ensembl's annotation of the new GRCh38 human genome assembly"
  • Matthew Warman- Harvard Medical School, Boston - "Ensembl's annotation of the new GRCh38 human genome assembly"
  • Laura Conlin- University of Pennsylvania, Philadelphia - "Somatic Mosaicism and Uniparental Disomy"
  • Thierry Voet- University of Leuven, Belguim - "Single-cell genomics reveals genetic heterogeneity in health and disease"


Closing Date 15th August 2014  - abstract submission has closed.

We invite abstracts to be submitted to the meeting within the theme of  germline and somatic mosaicism for consideration as both oral and "virtual" poster presentations. We also welcome other abstracts with general "variation" themes.  Please see the Abstract tab above for instructions on formatting and how to submit.

You do not need to submit an abstract to attend.

See "Instructions for Posters" page tab above for Poster formatting instuctions.


Monterey Ballroom

Embassy Suites San Diego Bay Downtown  (short walk to San Diego Convention Centre)

601 Pacific Highway

San Diego, CA, USA



Saturday 18th October 2014

  • Registration opens 7.45 am (PLEASE, do NOT come earlier)
  • Meeting begins 8.25 am
  • Meeting ends 4.30 pm (in time for you to walk to ASHG Welcome Addresses)


Registration includes access to the conference, administrative costs, coffee breaks, and lunch.

The fees are in US dollars.

EARLYBIRD: until  31st August 2014

HGVS Member: $160  (you can join while registering if not a member US$50)
Non-member: $180

REGULAR: from 1st September 2014 to onsite

HGVS Member: $180 
Non-member: $203

If you are not a HGVS member, why not join the Society now while you are registering and you automatically receive the discount.


If you are attending the ASHG meeting, you may use their accommmodation booking service to book your room. 



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