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Measures for capturing coverage of genetic variation in a population

Durbin, R (Sanger Institute)
Monday 26 September 2011, 09:40-09:50

Seminar Room 1, Newton Institute


The price of DNA sequencing and related technologies has dropped to a point where we can consider sequencing the genomes of a suffciently large sample of individuals in a human population to capture almost all genetic variation.

We are already engaged in such studies in population isolates such as in Kuusamo in the north-east of Finland (population 20,000, founded by 34 families around 1650) or Orkney (population 15,000). There are many questions of eficient design, but also of what the quantity of interest is and how to measure it. Almost all variation is shared by inheritance, but every person has some genetic variants not inherited from our parents, due to new mutations. I will introduce some of the measures and strategies we are using, and I hope initiate discussion. I believe there is lots of scope for new ideas.


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