Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Marteinn T, Hardarson"'
Autor:
Snaedis Kristmundsdottir, Hakon Jonsson, Marteinn T. Hardarson, Gunnar Palsson, Doruk Beyter, Hannes P. Eggertsson, Arnaldur Gylfason, Gardar Sveinbjornsson, Guillaume Holley, Olafur A. Stefansson, Gisli H. Halldorsson, Sigurgeir Olafsson, Gudny. A. Arnadottir, Pall I. Olason, Ogmundur Eiriksson, Gisli Masson, Unnur Thorsteinsdottir, Thorunn Rafnar, Patrick Sulem, Agnar Helgason, Daniel F. Gudbjartsson, Bjarni V. Halldorsson, Kari Stefansson
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-12 (2023)
Abstract Microsatellites are polymorphic tracts of short tandem repeats with one to six base-pair (bp) motifs and are some of the most polymorphic variants in the genome. Using 6084 Icelandic parent-offspring trios we estimate 63.7 (95% CI: 61.9–65
Externí odkaz:
https://doaj.org/article/113e73b990e84e01a7edcf95e209fb66
Autor:
Hannes P. Eggertsson, Snaedis Kristmundsdottir, Doruk Beyter, Hakon Jonsson, Astros Skuladottir, Marteinn T. Hardarson, Daniel F. Gudbjartsson, Kari Stefansson, Bjarni V. Halldorsson, Pall Melsted
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-8 (2019)
Structural variants may be omitted in sequence analysis despite their importance in genome variation and phenotypic impact. Here the authors present GraphTyper2, which uses pangenome graphs to genotype structural variants using short-reads and can be
Externí odkaz:
https://doaj.org/article/cd77ec3f22c54b3da55a42242e739711
Autor:
Sverrir T. Sverrisson, Daniel F. Gudbjartsson, Droplaug N Magnusdottir, Ragnar P. Kristjansson, Gisli Masson, Bjarni Torfason, Snaedis Kristmundsdottir, Patrick Sulem, Olof Sigurdardottir, Doruk Beyter, Isleifur Olafsson, Guillaume Holley, Bjarni A Atlason, Aslaug Jonasdottir, Gudmundur I. Eyjolfsson, Helga Ingimundardottir, Hilma Holm, Marteinn T. Hardarson, Asmundur Oddsson, Kari Stefansson, Olafur A. Stefansson, Sigurjon A. Gudjonsson, Hannes P. Eggertsson, Agnar Helgason, Unnur Thorsteinsdottir, Eythor Bjornsson, Svenja Mehringer, Hakon Jonsson, Gunnar K. Pálsson, Adalbjorg Jonasdottir, Bjarni V. Halldorsson, Olafur T. Magnusson
Publikováno v:
Nature Genetics. 53:779-786
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 per individual (a median of 13,353 insertions and 9,474 deletions). We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5075d64883958b1e3306dfba5531fd2c
https://doi.org/10.1038/s41588-021-00865-4
https://doi.org/10.1038/s41588-021-00865-4
Autor:
Jona Saemundsdottir, Arnaldur Gylfason, Hreinn Stefansson, Steinunn Snorradottir, Gudmar Thorleifsson, Brynjar O. Jensson, Sverrir T. Sverrisson, Gisli Masson, Brynjar Sigurdsson, Olafur Th Magnusson, Agnar Helgason, Unnur Styrkarsdottir, Olafur A. Stefansson, Sigurjon A. Gudjonsson, Hannes Hauswedell, Pall I. Olason, Margret Asgeirsdottir, Páll Melsted, Droplaug N Magnusdottir, Marteinn T. Hardarson, Asmundur Oddsson, Gisli H. Halldorsson, Kristjan Norland, Hannes P. Eggertsson, Thorunn Rafnar, Kari Stefansson, Hilma Holm, Unnur Thorsteinsdottir, Emilia Sobech, Doruk Beyter, Ogmundur Eiriksson, Kristjan H. S. Moore, Brynja D. Sigurpalsdottir, Gunnar Th. Sigurdsson, Ingileif Jonsdottir, Guillaume Holley, Snaedis Kristmundsdottir, Kari Kristinsson, Bjarni V. Halldorsson, Gunnar K. Pálsson, Magnus O. Ulfarsson, Frosti Jonsson, Daniel F. Gudbjartsson, Vinicius Tragante, Patrick Sulem, Florian Zink, Gardar Sveinbjornsson, Hakon Jonsson
We describe the analysis of whole genome sequences (WGS) of 150,119 individuals from the UK biobank (UKB). This constitutes a set of high quality variants, including 585,040,410 SNPs, representing 7.0% of all possible human SNPs, and 58,707,036 indel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3ec97dcc172cfe882dfcfb8c2d1ae42a
https://doi.org/10.1101/2021.11.16.468246
https://doi.org/10.1101/2021.11.16.468246
Autor:
Bjarni V, Halldorsson, Hannes P, Eggertsson, Kristjan H S, Moore, Hannes, Hauswedell, Ogmundur, Eiriksson, Magnus O, Ulfarsson, Gunnar, Palsson, Marteinn T, Hardarson, Asmundur, Oddsson, Brynjar O, Jensson, Snaedis, Kristmundsdottir, Brynja D, Sigurpalsdottir, Olafur A, Stefansson, Doruk, Beyter, Guillaume, Holley, Vinicius, Tragante, Arnaldur, Gylfason, Pall I, Olason, Florian, Zink, Margret, Asgeirsdottir, Sverrir T, Sverrisson, Brynjar, Sigurdsson, Sigurjon A, Gudjonsson, Gunnar T, Sigurdsson, Gisli H, Halldorsson, Gardar, Sveinbjornsson, Kristjan, Norland, Unnur, Styrkarsdottir, Droplaug N, Magnusdottir, Steinunn, Snorradottir, Kari, Kristinsson, Emilia, Sobech, Helgi, Jonsson, Arni J, Geirsson, Isleifur, Olafsson, Palmi, Jonsson, Ole Birger, Pedersen, Christian, Erikstrup, Søren, Brunak, Sisse Rye, Ostrowski, Gudmar, Thorleifsson, Frosti, Jonsson, Pall, Melsted, Ingileif, Jonsdottir, Thorunn, Rafnar, Hilma, Holm, Hreinn, Stefansson, Jona, Saemundsdottir, Daniel F, Gudbjartsson, Olafur T, Magnusson, Gisli, Masson, Unnur, Thorsteinsdottir, Agnar, Helgason, Hakon, Jonsson, Patrick, Sulem, Thomas, Werge
Publikováno v:
Nature. 607(7920)
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 and phenotypic variation. Over the past decade, insights into this relatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7fc382f82eda30e2487a10b47c2249b6
https://pubmed.ncbi.nlm.nih.gov/35859178
https://pubmed.ncbi.nlm.nih.gov/35859178
Autor:
Thorunn Rafnar, Olafur Th Magnusson, Agnar Helgason, Patrick Sulem, Einar A. Helgason, Adalbjorg Jonasdottir, Kristjan E. Hjorleifsson, Hannes Helgason, Daniel F. Gudbjartsson, Eirikur Hjartarson, Lucas D. Ward, Hakon Jonsson, Snaedis Kristmundsdottir, Gudny A. Arnadottir, Arnaldur Gylfason, Sigurjon A. Gudjonsson, Hannes P. Eggertsson, Birte Kehr, Bjarni V. Halldorsson, Mike Frigge, Aslaug Jonasdottir, Simon N. Stacey, Augustine Kong, Florian Zink, Marteinn T. Hardarson, Kari Stefansson, Gisli Masson, Unnur Thorsteinsdottir
Publikováno v:
Nature. 549:519-522
The characterization of mutational processes that generate sequence diversity in the human genome is of paramount importance both to medical genetics and to evolutionary studies. To understand how the age and sex of transmitting parents affect de nov
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed6ed13dbce6d788135a0c37dec747e9
https://doi.org/10.1038/nature24018
https://doi.org/10.1038/nature24018
Autor:
Isleifur Olafsson, Ragnar P. Kristjansson, Olof Sigurdardottir, Gudmundur I. Eyjolfsson, Hakon Jonsson, Daniel F. Gudbjartsson, Gisli Masson, Eythor Bjornsson, Adalbjorg Jonasdottir, Sverrir T. Sverrisson, Patrick Sulem, Snaedis Kristmundsdottir, Droplaug N Magnusdottir, Hannes P. Eggertsson, Marteinn T. Hardarson, Asmundur Oddsson, Kari Stefansson, Aslaug Jonasdottir, Helga Ingimundardottir, Bjarni A Atlason, Unnur Thorsteinsdottir, Doruk Beyter, Bjarni Torfason, Svenja Mehringer, Olafur A. Stefansson, Guillaume Holley, Sigurjon A. Gudjonsson, Agnar Helgason, Bjarni V. Halldorsson, Gunnar K. Pálsson, Olafur T. Magnusson, Hilma Holm
Long-read sequencing (LRS) promises to improve characterization of structural variants (SVs), a major source of genetic diversity. We generated LRS data on 3,622 Icelanders using Oxford Nanopore Technologies, and identified a median of 22,636 SVs per
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1c710c770a4a46b10f0795eac798d8a0
https://doi.org/10.1101/848366
https://doi.org/10.1101/848366
Autor:
Doruk, Beyter, Helga, Ingimundardottir, Asmundur, Oddsson, Hannes P, Eggertsson, Eythor, Bjornsson, Hakon, Jonsson, Bjarni A, Atlason, Snaedis, Kristmundsdottir, Svenja, Mehringer, Marteinn T, Hardarson, Sigurjon A, Gudjonsson, Droplaug N, Magnusdottir, Aslaug, Jonasdottir, Adalbjorg, Jonasdottir, Ragnar P, Kristjansson, Sverrir T, Sverrisson, Guillaume, Holley, Gunnar, Palsson, Olafur A, Stefansson, Gudmundur, Eyjolfsson, Isleifur, Olafsson, Olof, Sigurdardottir, Bjarni, Torfason, Gisli, Masson, Agnar, Helgason, Unnur, Thorsteinsdottir, Hilma, Holm, Daniel F, Gudbjartsson, Patrick, Sulem, Olafur T, Magnusson, Bjarni V, Halldorsson, Kari, Stefansson
Publikováno v:
Nature genetics. 53(6)
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 per individual (a median of 13,353 insertions and 9,474 deletions). We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5a0cdd5750adf4da02aa997e3b764f93
https://pubmed.ncbi.nlm.nih.gov/33972781
https://pubmed.ncbi.nlm.nih.gov/33972781
Autor:
Adalbjorg Jonasdottir, Unnur Styrkarsdottir, Arnaldur Gylfason, Florian Zink, Birte Kehr, Daniel F. Gudbjartsson, Aslaug Jonasdottir, Agnar Helgason, Unnur Thorsteinsdottir, Patrick Sulem, Gudmar Thorleifsson, Bjarni V. Halldorsson, Augustine Kong, Marteinn T. Hardarson, Kari Stefansson, Gisli Masson
Publikováno v:
Nature Genetics. 48:1377-1384
Meiotic recombination involves a combination of gene conversion and crossover events that, along with mutations, produce germline genetic diversity. Here we report the discovery of 3,176 SNP and 61 indel gene conversions. Our estimate of the non-cros
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::136b0c6c0e7dfe41a749c7c2fa8e6026
https://doi.org/10.1038/ng.3669
https://doi.org/10.1038/ng.3669
Autor:
Adalbjorg Jonasdottir, Gisli Masson, Patrick Sulem, Unnur Thorsteinsdottir, Bjarni V. Halldorsson, Birte Kehr, Agnar Helgason, Aslaug Jonasdottir, Arnaldur Gylfason, Marteinn T. Hardarson, Kari Stefansson, Augustine Kong, Unnur Styrkarsdottir, Gudmar Thorleifsson, Daniel F. Gudbjartsson, Florian Zink
Publikováno v:
Nature genetics
Meiotic recombination involves a combination of gene conversion and crossover events that along with mutations produce germline genetic diversity. Here, we report the discovery of 3,176 SNP and 61 indel gene conversions. Our estimate of the non-cross
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30d06734fbbd66e930d94ce0830164cd
https://pubmed.ncbi.nlm.nih.gov/27643539
https://pubmed.ncbi.nlm.nih.gov/27643539