Understanding the Function of Human Genome Variation (K1)

Scientific Organizers: Kerstin Lindblad-Toh and Xavier Estivill


May 31—June 4, 2016

Uppsala Konsert & Kongress, Uppsala, Sweden


Organized in collaboration with Knut and Alice Wallenberg Foundation and Science for Life Laboratory


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** Meeting has ended **

Discounted Abstract Deadline: February 1, 2016

*All deadlines end at 11:59 PM US Mountain Standard Time

Abstract Submission Fee: 100.00 USD*
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Scholarship Deadline: February 1, 2016

*All deadlines end at 11:59 PM US Mountain Standard Time


Scholarship Details: You MUST submit your abstract by the Scholarship Deadline and complete the other required steps (submit a scholarship application and submit a mentor letter) to be considered for a scholarship.

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Abstract Deadline: March 15, 2016

*All deadlines end at 11:59 PM US Mountain Standard Time


Abstract Submission Fee: 100.00 USD*
*50.00 USD will be applied to Registration Fee when you register

Details: It is best to submit your abstract early. Abstract and registration spaces are limited and may fill prior to the abstract or discounted registration deadline. Submitting an abstract does not constitute or guarantee registration.

Submitting your abstract by the Abstract Deadline allows us to:

  • submit your abstract to organizers to be considered for a short talk
  • include your abstract on our website and in our secure mobile app
  • reserve your space at the meeting for a poster presentation.**
**Submitting an abstract does not constitute or guarantee registration.
Abstracts submitted after the Abstract Deadline will NOT be considered for a short talk.

(Discounted Abstract Deadline: is February 1, 2016)

Discounted Registration Deadline: March 31, 2016

*All deadlines end at 11:59 PM US Mountain Standard Time


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Student Registration Fee: 620.00 USD* (must complete student verification form)

*Includes 50.00 USD of your abstract submission fee

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Registration Fee: 995.00 USD*
Student Registration Fee: 770.00 USD* (must complete student verification form)

*Includes 50.00 USD of your abstract submission fee

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Meeting Summary



One of the most complex problems in medical and evolutionary genomics is interpreting the function of the millions of variants the genome contains, most being rare and private to each individual or with consequences constrained to specific cells or tissues. The functional consequences of variation in coding regions are well established, but the majority of genetic variation resides in the noncoding portion of the human genome. In fact, more than 85% of genome-wide association signals fall outside coding regions, suggesting a large contribution from variants not well understood both to complex disease and to variation selected for different types of adaptation. The goal of this meeting is to bring together experts who may address important questions such as the function of noncoding variation, the connection between selection and disease, the diverse action of variants in different physiological and pathological scenarios, who develop and apply novel tools to connect genotype and phenotype both in disease and in an evolutionary context. By combining the diverse knowledge of many aspects of genomic analysis, we hope to bring out critical discussion and novel approaches to understanding human genome variation of crucial importance for the individualized genome analysis that precision medicine proposes. We are now entering the age of precision medicine with the capacity to analyze the genome of every subject, evaluating the functional consequences of variability and its interaction with the environment at different time-points in life. This is a new scenario for human biology and genetics in which fields need the convergence of different communities of scientists to address human complex disease, genome biology and evolutionary genomics in the context of a broader discussion on genome function. Our goal here is to bring together a very cross-disciplinary set of speakers who can address all aspects of genome variability and function, and thus to open everyone's eyes to the interplay between selection and disease, as well as the likely importance of pleiotropic consequences of genetic variability based on genome function and evolution.