User profiles for Hannes P. Eggertsson
Hannes Pétur EggertssondeCODE Genetics Verified email at decode.is Cited by 1711 |
Parental influence on human germline de novo mutations in 1,548 trios from Iceland
…, MT Hardarson, KE Hjorleifsson, HP Eggertsson… - Nature, 2017 - nature.com
The characterization of mutational processes that generate sequence diversity in the human
genome is of paramount importance both to medical genetics 1 , 2 and to evolutionary …
genome is of paramount importance both to medical genetics 1 , 2 and to evolutionary …
[HTML][HTML] The sequences of 150,119 genomes in the UK Biobank
BV Halldorsson, HP Eggertsson, KHS Moore… - Nature, 2022 - nature.com
Detailed knowledge of how diversity in the sequence of the human genome affects phenotypic
diversity depends on a comprehensive and reliable characterization of both sequences …
diversity depends on a comprehensive and reliable characterization of both sequences …
Characterizing mutagenic effects of recombination through a sequence-level genetic map
…, H Jonsson, MT Hardarson, HP Eggertsson… - Science, 2019 - science.org
INTRODUCTION Diversity in the sequence of the human genome, arising from recombinations
and mutations, is fundamental to human evolution and human diversity. Meiotic …
and mutations, is fundamental to human evolution and human diversity. Meiotic …
Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits
…, H Ingimundardottir, A Oddsson, HP Eggertsson… - Nature …, 2021 - nature.com
Long-read sequencing (LRS) promises to improve the characterization of structural variants
(SVs). We generated LRS data from 3,622 Icelanders and identified a median of 22,636 SVs …
(SVs). We generated LRS data from 3,622 Icelanders and identified a median of 22,636 SVs …
Differences between germline genomes of monozygotic twins
H Jonsson, E Magnusdottir, HP Eggertsson… - Nature Genetics, 2021 - nature.com
Despite the important role that monozygotic twins have played in genetics research, little is
known about their genomic differences. Here we show that monozygotic twins differ on …
known about their genomic differences. Here we show that monozygotic twins differ on …
Graphtyper enables population-scale genotyping using pangenome graphs
HP Eggertsson, H Jonsson, S Kristmundsdottir… - Nature …, 2017 - nature.com
A fundamental requirement for genetic studies is an accurate determination of sequence
variation. While human genome sequence diversity is increasingly well characterized, there is a …
variation. While human genome sequence diversity is increasingly well characterized, there is a …
[HTML][HTML] DNA methylation as a mediator of HLA-DRB1*15:01 and a protective variant in multiple sclerosis
…, AB Oturai, S Olafsson, HP Eggertsson… - Nature …, 2018 - nature.com
The human leukocyte antigen (HLA) haplotype DRB1*15:01 is the major risk factor for
multiple sclerosis (MS). Here, we find that DRB1*15:01 is hypomethylated and predominantly …
multiple sclerosis (MS). Here, we find that DRB1*15:01 is hypomethylated and predominantly …
Actionable genotypes and their association with life span in Iceland
…, G Sveinbjornsson, HP Eggertsson… - … England Journal of …, 2023 - Mass Medical Soc
Background In 2021, the American College of Medical Genetics and Genomics (ACMG)
recommended reporting actionable genotypes in 73 genes associated with diseases for which …
recommended reporting actionable genotypes in 73 genes associated with diseases for which …
Lipoprotein (a) concentration and risks of cardiovascular disease and diabetes
…, A Jonasdottir, A Jonasdottir, HP Eggertsson… - Journal of the American …, 2019 - jacc.org
Background : Lipoprotein(a) [Lp(a)] is a causal risk factor for cardiovascular diseases that
has no established therapy. The attribute of Lp(a) that affects cardiovascular risk is not …
has no established therapy. The attribute of Lp(a) that affects cardiovascular risk is not …
[HTML][HTML] Whole genome characterization of sequence diversity of 15,220 Icelanders
…, MT Hardarson, KE Hjorleifsson, HP Eggertsson… - Scientific data, 2017 - nature.com
Understanding of sequence diversity is the cornerstone of analysis of genetic disorders,
population genetics, and evolutionary biology. Here, we present an update of our sequencing …
population genetics, and evolutionary biology. Here, we present an update of our sequencing …