"Small is Beautiful: Genetic Studies in the Founder Population of Iceland"

Reports on a talk at the 1000 Genomes Project meeting a couple days ago:

13 Jul Nicolas Robine Nicolas Robine ?@notSoJunkDNA Augustine Kong (deCode Genetics) at #1000genomes

13 Jul Karol Estrada Karol Estrada ?@karls_es Augustine Kong: deCode has genotyped 100,000 samples, and whole-genome sequenced 2,200 samples #1000genomes

13 Jul Nicolas Robine Nicolas Robine ?@notSoJunkDNA AK: 100k chip-typed individuas to study "recombination as a phenotype", and examine "transmission distortion" #1000genomes

13 Jul Goncalo Abecasis Goncalo Abecasis ?@gabecasis Augustine Kong talks about gene mapping in Iceland. A population that is just the right size. Definitely not too small. #1000genomes

13 Jul Karol Estrada Karol Estrada ?@karls_es AK: imputations with 2200 seq. individuals have high accuracy (r^2>0.90 for variants down to 0.1%! #1000genomes

13 Jul Goncalo Abecasis Goncalo Abecasis ?@gabecasis AK: Rate of mutation doubles with every 16 year increase in paternal age. #1000genomes

13 Jul Karol Estrada Karol Estrada ?@karls_es AK: Genomic segments of Norwegian ancestry have 8 fold more singletons than average in deCode's dataset #1000genomes

Alex Forrest-Hay ?@aforre #1000genomes Augustine Kong: 400k SNPs would cover the Icelandic genome sufficiently to enable accurate imputation

Interview with Kari Stefansson:

We have sequenced the whole genomes of 2,500 people. We have genotyped about 120,000 Icelanders with an Illumina chip. We can impute whole genome sequence down to variants with less than 0.1% frequency into about 370,000 Icelanders -- there are only 320,000 living today!”

“We basically have the whole genome sequence of an entire nation.”