Publications by authors named "Gunnar Th Sigurdsson"
We have accumulated considerable data on the genetic makeup of the Icelandic population by sequencing the whole genomes of 2,636 Icelanders to depth of at least 10X and by chip genotyping 101,584 more. The sequencing was done with Illumina technology. The median sequencing depth was 20X and 909 individuals were sequenced to a depth of at least 30X.
View Article and Find Full Text PDFHere 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).
View Article and Find Full Text PDFLoss-of-function mutations cause many mendelian diseases. Here we aimed to create a catalog of autosomal genes that are completely knocked out in humans by rare loss-of-function mutations. We sequenced the whole genomes of 2,636 Icelanders and imputed the sequence variants identified in this set into 101,584 additional chip-genotyped and phased Icelanders.
View Article and Find Full Text PDFArticle Synopsis
- Stroke is a complex disease with various subtypes and multiple secondary risk factors like hypertension and diabetes, which have their own genetic and environmental influences.
- Researchers conducted a genomewide search for genes that might increase susceptibility to common stroke forms by analyzing data from stroke patients in Iceland and a genealogy database, identifying 476 patients within 179 extended families.
- A significant discovery was made on chromosome 5q12, with a high LOD score indicating strong evidence for a genetic link to stroke; this region, named "STRK1," is novel and not previously associated with known stroke susceptibility loci.