Zobrazeno 1 - 9 of 9 pro vyhledávání: '"Eirikur Hjartarson"'
1
Graphtyper enables population-scale genotyping using pangenome graphs
Autor: Daniel F. Gudbjartsson, Gisli Masson, Aslaug Jonasdottir, Snaedis Kristmundsdottir, Eirikur Hjartarson, Páll Melsted, Kari Stefansson, Hakon Jonsson, Florian Zink, Hannes P. Eggertsson, Bjarni V. Halldorsson, Adalbjorg Jonasdottir, Kristjan E. Hjorleifsson, Ingileif Jonsdottir, Birte Kehr
Publikováno v: Nature Genetics. 49:1654-1660
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 need for efficient ways to use this knowledge in sequence analysis.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06c3acada671ed888add93b33d452c2b
https://doi.org/10.1038/ng.3964
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4
Graphtyper: Population-scale genotyping using pangenome graphs
Autor: Hannes P. Eggertsson, Bjarni V. Halldorsson, Daniel F. Gudbjartsson, Snaedis Kristmundsdottir, Gisli Masson, Birte Kehr, Eirikur Hjartarson, Aslaug Jonasdottir, Hakon Jonsson, Ingileif Jonsdottir, Adalbjorg Jonasdottir, Kari Stefansson, Páll Melsted, Florian Zink
A fundamental requisite for genetic studies is an accurate determination of sequence variation. While human genome sequence diversity is increasingly well characterized, there is a need for efficient ways to utilize this knowledge in sequence analysi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a2009c963985e92949f54f2d0bf5c5c
https://doi.org/10.1101/148403
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7
Sequence variants from whole genome sequencing a large group of Icelanders
Autor: Asmundur Oddson, Unnur Thorsteinsdottir, Kari Stefansson, Hannes Helgason, Florian Zink, Olafur Th Magnusson, Agnar Helgason, Gisli Magnusson, Arnaldur Gylfason, Eirikur Hjartarson, Bjarni V. Halldorsson, Gunnar Th. Sigurdsson, Patrick Sulem, Sigurjon A. Gudjonsson, Augustine Kong, Daniel F. Gudbjartsson, Gisli Masson
Publikováno v: Scientific Data
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
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::248fa324f681f48c6fcf5c26051109f6
https://doi.org/10.1038/sdata.2015.11
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8
Identification of a large set of rare complete human knockouts
Autor: Aslaug Jonasdottir, Asmundur Oddson, Gunnar Th. Sigurdsson, Kari Stefansson, Adalbjorg Jonasdottir, Daniel F. Gudbjartsson, Hannes Helgason, Hilma Holm, Florian Zink, Eirikur Hjartarson, Augustine Kong, Asgeir Sigurdsson, Patrick Sulem, Unnur Thorsteinsdottir, Olafur Th Magnusson, Agnar Helgason, Hreinn Stefansson, Sigurjon A. Gudjonsson, Gisli Masson
Publikováno v: Nature genetics. 47(5)
Loss-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 impute
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0987361c22d587a67c7ce09ef40accef
https://pubmed.ncbi.nlm.nih.gov/25807282
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9
Large-scale whole-genome sequencing of the Icelandic population
Autor: Gisli Masson, Einar Björnsson, Hrefna Johannsdottir, Hilma Holm, Bjarni Thjodleifsson, Arnaldur Gylfason, Olafur Th Magnusson, Agnar Helgason, Asmundur Oddson, Gudmundur I. Eyjolfsson, Thora Steingrimsdottir, Thora S. Gudmundsdottir, Thorunn Rafnar, Augustine Kong, Asgeir Sigurdsson, Unnur Thorsteinsdottir, Hafdis T. Helgadottir, Sigurjon A. Gudjonsson, Olof Sigurdardottir, Søren Besenbacher, Eirikur Hjartarson, Simon N. Stacey, Daniel F. Gudbjartsson, Jon G. Jonasson, Florian Zink, David O. Arnar, Jon Th. Sverrisson, Gunnlaugur Sigfússon, Kari Stefansson, Gunnar Th. Sigurdsson, Petur Ludvigsson, G. Bragi Walters, Hildur Thorarinsdottir, Isleifur Olafsson, Ásgeir Theodórs, Hakon Gudbjartsson, Sigurdur Olafsson, Gyda Bjornsdottir, Patrick Sulem, Michael L. Frigge, Solveig Gretarsdottir, Hannes Helgason, Gisli Magnusson, Jon J. Jonsson, Bjarni V. Halldorsson, Ólafur Thorarensen, Jona Saemundsdottir, Gudmundur Thorgeirsson
Publikováno v: Gudbjartsson, D F, Helgason, H, Gudjonsson, S A, Zink, F, Oddson, A, Gylfason, A, Besenbacher, S, Magnusson, G, Halldorsson, B V, Hjartarson, E, Sigurdsson, G T, Stacey, S N, Frigge, M L, Holm, H, Saemundsdottir, J, Helgadottir, H T, Johannsdottir, H, Sigfusson, G, Thorgeirsson, G, Sverrisson, J T, Gretarsdottir, S, Walters, G B, Rafnar, T, Thjodleifsson, B, Bjornsson, E S, Olafsson, S, Thorarinsdottir, H, Steingrimsdottir, T, Gudmundsdottir, T S, Theodors, A, Jonasson, J G, Sigurdsson, A, Bjornsdottir, G, Jonsson, J J, Thorarensen, O, Ludvigsson, P, Gudbjartsson, H, Eyjolfsson, G I, Sigurdardottir, O, Olafsson, I, Arnar, D O, Magnusson, O T, Kong, A, Masson, G, Thorsteinsdottir, U, Helgason, A, Sulem, P & Stefansson, K 2015, ' Large-scale whole-genome sequencing of the Icelandic population ', Nature Genetics, vol. 47, no. 5, pp. 435-44 . https://doi.org/10.1038/ng.3247
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 va
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a4b7ac4678f3250ce5fd928bdefd3df
https://pubmed.ncbi.nlm.nih.gov/25820286
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