FYI.... ---------- Forwarded message ---------- From: Peterson, Katherine (NIH/NEI) [E] <[email protected]> Date: Tue, May 12, 2015 at 4:03 PM Subject: Reminder: Microarray Users' journal club
Greetings, This is to remind you that the May edition of the Microarray Users’ will be held on Wednesday May 13th. Genomes in Iceland. Enough said. Here are the details. When: Wednesday May 13, 2015 at 11 o’clock. Where: NIH Bethesda, Building 10 Library Media Room. What: Large-scale whole-genome sequencing of the Icelandic population Daniel F Gudbjartsson et al. Nature Genetics 47(5): 435-464 March 25, 2015. Here we describe the insights gained from sequencing the whole genomes of 2,636 Icelanders to a median depth of 20×. We found 20 million SNPs and 1.5 million insertions-deletions (indels). We describe the density and frequency spectra of sequence variants in relation to their functional annotation, gene position, pathway and conservation score. We demonstrate an excess of homozygosity and rare protein-coding variants in Iceland. We imputed these variants into 104,220 individuals down to a minor allele frequency of 0.1% and found a recessive frameshift mutation in *MYL4 *that causes early-onset atrial fibrillation, several mutations in * ABCB4 *that increase risk of liver diseases and an intronic variant in *GNAS *associating with increased thyroid-stimulating hormone levels when maternally inherited. These data provide a study design that can be used to determine how variation in the sequence of the human genome gives rise to human diversity. Here is the URL for the supplementary information if you happen to be in NIH, http://www.nature.com/ng/journal/v47/n5/full/ng.3247.html All are welcome. This is sure to be an interesting talk. Aloha, Katherine
