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

Multi-component apparent diffusion coefficients in human brain: Relationship to spin-lattice relaxation

Autor: Hakon Gudbjartsson, David Holtzman, Walid E. Kyriakos, Ferenc A. Jolesz, Robert V. Mulkern, Richard L. Robertson, Charles R.G. Guttmann, Kelly H. Zou, Péter Bogner, Stephan E. Maier, Hale Pinar Zengingonul

Publikováno v: Magnetic Resonance in Medicine. 44:292-300

In vivo measurements of the human brain tissue water signal decay with b-factor over an extended b-factor range up to 6,000 s/mm 2 reveal a nonmonoexponential decay behavior for both gray and white matter. Biexponential parametrization of the decay c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ce112b0c167cd7f3ddd224dc7a61c1f0
https://doi.org/10.1002/1522-2594(200008)44:2<292::aid-mrm17>3.0.co

Multi-component apparent diffusion coefficients in human brain

Autor: Hakon Gudbjartsson, Richard B. Schwartz, Carl-Fredrik Westin, Hale Pinar Zengingonul, Werner Gartner, Stephan E. Maier, Ferenc A. Jolesz, Charles R.G. Guttmann, Walid E. Kyriakos, Richard L. Robertson, Robert V. Mulkern, David Holtzman

Publikováno v: NMR in Biomedicine. 12:51-62

The signal decay with increasing b-factor at fixed echo time from brain tissue in vivo has been measured using a line scan Stejskal–Tanner spin echo diffusion approach in eight healthy adult volunteers. The use of a 175 ms echo time and maximum gra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::158965d4498cf8bc6b04a7dee4af6f1d
https://doi.org/10.1002/(sici)1099-1492(199902)12:1<51::aid-nbm546>3.0.co

The rician distribution of noisy mri data

Autor: Hakon Gudbjartsson, Samuel Patz

Publikováno v: Magnetic Resonance in Medicine. 34:910-914

The image intensity in magnetic resonance magnitude images in the presence of noise is shown to be governed by a Rician distribution. Low signal intensities (SNR < 2) are therefore biased due to the noise. It is shown how the underlying noise can be

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d06aeacb55249bea683419d6e20968c
https://doi.org/10.1002/mrm.1910340618

Protection of privacy by third-party encryption in genetic research in Iceland

Autor: Kristleifur Kristjansson, Hakon Gudbjartsson, Kari Stefansson, Jeffrey R. Gulcher

Publikováno v: European journal of human genetics : EJHG. 8(10)

As the new human genetics continues its dramatic expansion into many laboratories and medical institutions, the concern for the protection of the personal privacy of individuals who participate increases. It seems that even the smallest of laboratori

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b61e2c64dc607dda02628a9fadbe91c
https://pubmed.ncbi.nlm.nih.gov/11039572