SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "L773:1018 4813 OR L773:1476 5438 "

Sökning: L773:1018 4813 OR L773:1476 5438

Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
1.
  • de Wert, Guido, et al. (författare)
  • Human germline gene editing : Recommendations of ESHG and ESHRE
  • 2018
  • Ingår i: European Journal of Human Genetics. - Nature Publishing Group. - 1018-4813 .- 1476-5438. - 1476-5438 (Electronic) 1018-4813 (Linking) ; 26:4, s. 445-449
  • Tidskriftsartikel (refereegranskat)abstract
    • <p>Technological developments in gene editing raise high expectations for clinical applications, first of all for somatic gene editing but in theory also for germline gene editing (GLGE). GLGE is currently not allowed in many countries. This makes clinical applications in these countries impossible now, even if GLGE would become safe and effective. What were the arguments behind this legislation, and are they still convincing? If a technique can help to avoid serious genetic disorders, in a safe and effective way, would this be a reason to reconsider earlier standpoints? The European Society of Human Reproduction and Embryology (ESHRE) and the European Society of Human Genetics (ESHG) together developed a Background document and Recommendations to inform and stimulate ongoing societal debates. After consulting its membership and experts, this final version of the Recommendations was endorsed by the Executive Committee and the Board of the respective Societies in May 2017. Taking account of ethical arguments, we argue that both basic and pre-clinical research regarding GLGE can be justified, with conditions. Furthermore, while clinical GLGE would be totally premature, it might become a responsible intervention in the future, but only after adequate pre-clinical research. Safety of the child and future generations is a major concern. Future discussions must also address priorities among reproductive and potential non-reproductive alternatives, such as PGD and somatic editing, if that would be safe and successful. The prohibition of human germline modification, however, needs renewed discussion among relevant stakeholders, including the general public and legislators.</p>
  •  
2.
  • De Wert, G., et al. (författare)
  • Responsible innovation in human germline gene editing : Background document to the recommendations of ESHG and ESHRE
  • 2018
  • Ingår i: European Journal of Human Genetics. - Nature Publishing Group. - 1018-4813 .- 1476-5438. - 1476-5438 (Electronic) 1018-4813 (Linking) ; 26:4, s. 450-470
  • Tidskriftsartikel (refereegranskat)abstract
    • <p>Technological developments in gene editing raise high expectations for clinical applications, including editing of the germline. The European Society of Human Reproduction and Embryology (ESHRE) and the European Society of Human Genetics (ESHG) together developed a Background document and Recommendations to inform and stimulate ongoing societal debates. This document provides the background to the Recommendations. Germline gene editing is currently not allowed in many countries. This makes clinical applications in these countries impossible now, even if germline gene editing would become safe and effective. What were the arguments behind this legislation, and are they still convincing? If a technique could help to avoid serious genetic disorders, in a safe and effective way, would this be a reason to reconsider earlier standpoints? This Background document summarizes the scientific developments and expectations regarding germline gene editing, legal regulations at the European level, and ethics for three different settings (basic research, preclinical research and clinical applications). In ethical terms, we argue that the deontological objections (e.g., gene editing goes against nature) do not seem convincing while consequentialist objections (e.g., safety for the children thus conceived and following generations) require research, not all of which is allowed in the current legal situation in European countries. Development of this Background document and Recommendations reflects the responsibility to help society understand and debate the full range of possible implications of the new technologies, and to contribute to regulations that are adapted to the dynamics of the field while taking account of ethical considerations and societal concerns.</p>
  •  
3.
  • Abacan, MaryAnn, et al. (författare)
  • The Global State of the Genetic Counseling Profession
  • 2019
  • Ingår i: European Journal of Human Genetics. - NATURE PUBLISHING GROUP. - 1018-4813 .- 1476-5438. ; 27:2, s. 183-197
  • Forskningsöversikt (refereegranskat)abstract
    • <p>The profession of genetic counseling (also called genetic counselling in many countries) began nearly 50 years ago in the United States, and has grown internationally in the past 30 years. While there have been many papers describing the profession of genetic counseling in individual countries or regions, data remains incomplete and has been published in diverse journals with limited access. As a result of the 2016 Transnational Alliance of Genetic Counseling (TAGC) conference in Barcelona, Spain, and the 2017 World Congress of Genetic Counselling in the UK, we endeavor to describe as fully as possible the global state of genetic counseling as a profession. We estimate that in 2018 there are nearly 7000 genetic counselors with the profession established or developing in no less than 28 countries.</p>
4.
  •  
5.
  • Alm, Gunnar (författare)
  • A candidate gene study of the type I interferon pathway implicates IKBKE and IL8 as risk loci for SLE
  • 2011
  • Ingår i: European Journal of Human Genetics. - Nature Publishing Group: Open Access Hybrid Model Option B. - 1018-4813 .- 1476-5438. ; 19, s. 479-484
  • Tidskriftsartikel (refereegranskat)abstract
    • Systemic Lupus Erythematosus (SLE) is a systemic autoimmune disease in which the type I interferon pathway has a crucial role. We have previously shown that three genes in this pathway, IRF5, TYK2 and STAT4, are strongly associated with risk for SLE. Here, we investigated 78 genes involved in the type I interferon pathway to identify additional SLE susceptibility loci. First, we genotyped 896 single-nucleotide polymorphisms in these 78 genes and 14 other candidate genes in 482 Swedish SLE patients and 536 controls. Genes with P &lt; 0.01 in the initial screen were then followed up in 344 additional Swedish patients and 1299 controls. SNPs in the IKBKE, TANK, STAT1, IL8 and TRAF6 genes gave nominal signals of association with SLE in this extended Swedish cohort. To replicate these findings we extracted data from a genomewide association study on SLE performed in a US cohort. Combined analysis of the Swedish and US data, comprising a total of 2136 cases and 9694 controls, implicates IKBKE and IL8 as SLE susceptibility loci (P(meta)=0.00010 and P(meta)=0.00040, respectively). STAT1 was also associated with SLE in this cohort (P(meta)=3.3 x 10(-5)), but this association signal appears to be dependent of that previously reported for the neighbouring STAT4 gene. Our study suggests additional genes from the type I interferon system in SLE, and highlights genes in this pathway for further functional analysis. European Journal of Human Genetics (2011) 19, 479-484; doi:10.1038/ejhg.2010.197; published online 22 December 2010
  •  
6.
  •  
7.
  • Ameur, Adam, et al. (författare)
  • SweGen : a whole-genome data resource of genetic variability in a cross-section of the Swedish population
  • 2017
  • Ingår i: European Journal of Human Genetics. - NATURE PUBLISHING GROUP. - 1018-4813 .- 1476-5438. ; 25:11, s. 1253-1260
  • Tidskriftsartikel (refereegranskat)abstract
    • <p>Here we describe the SweGen data set, a comprehensive map of genetic variation in the Swedish population. These data represent a basic resource for clinical genetics laboratories as well as for sequencing-based association studies by providing information on genetic variant frequencies in a cohort that is well matched to national patient cohorts. To select samples for this study, we first examined the genetic structure of the Swedish population using high-density SNP-array data from a nation-wide cohort of over 10 000 Swedish-born individuals included in the Swedish Twin Registry. A total of 1000 individuals, reflecting a cross-section of the population and capturing the main genetic structure, were selected for whole-genome sequencing. Analysis pipelines were developed for automated alignment, variant calling and quality control of the sequencing data. This resulted in a genome-wide collection of aggregated variant frequencies in the Swedish population that we have made available to the scientific community through the website https://swefreq.nbis.se. A total of 29.2 million single-nucleotide variants and 3.8 million indels were detected in the 1000 samples, with 9.9 million of these variants not present in current databases. Each sample contributed with an average of 7199 individual-specific variants. In addition, an average of 8645 larger structural variants (SVs) were detected per individual, and we demonstrate that the population frequencies of these SVs can be used for efficient filtering analyses. Finally, our results show that the genetic diversity within Sweden is substantial compared with the diversity among continental European populations, underscoring the relevance of establishing a local reference data set.</p>
  •  
8.
  • Ameur, Adam, et al. (författare)
  • SweGen : a whole-genome data resource of genetic variability in a cross-section of the Swedish population
  • 2017
  • Ingår i: European Journal of Human Genetics. - 1018-4813 .- 1476-5438. ; 25:11, s. 1253-1260
  • Tidskriftsartikel (refereegranskat)abstract
    • <p>Here we describe the SweGen data set, a comprehensive map of genetic variation in the Swedish population. These data represent a basic resource for clinical genetics laboratories as well as for sequencing-based association studies by providing information on genetic variant frequencies in a cohort that is well matched to national patient cohorts. To select samples for this study, we first examined the genetic structure of the Swedish population using high-density SNP-array data from a nation-wide cohort of over 10 000 Swedish-born individuals included in the Swedish Twin Registry. A total of 1000 individuals, reflecting a cross-section of the population and capturing the main genetic structure, were selected for whole-genome sequencing. Analysis pipelines were developed for automated alignment, variant calling and quality control of the sequencing data. This resulted in a genome-wide collection of aggregated variant frequencies in the Swedish population that we have made available to the scientific community through the website https://swefreq.nbis.se. A total of 29.2 million single-nucleotide variants and 3.8 million indels were detected in the 1000 samples, with 9.9 million of these variants not present in current databases. Each sample contributed with an average of 7199 individual-specific variants. In addition, an average of 8645 larger structural variants (SVs) were detected per individual, and we demonstrate that the population frequencies of these SVs can be used for efficient filtering analyses. Finally, our results show that the genetic diversity within Sweden is substantial compared with the diversity among continental European populations, underscoring the relevance of establishing a local reference data set.</p>
  •  
9.
  • Andrade, Jorge, et al. (författare)
  • The use of grid computing to drive data-intensive genetic research
  • 2007
  • Ingår i: European Journal of Human Genetics. - 1018-4813 .- 1476-5438. ; 15:6, s. 694-702
  • Tidskriftsartikel (refereegranskat)abstract
    • <p>In genetics, with increasing data sizes and more advanced algorithms for mining complex data, a point is reached where increased computational capacity or alternative solutions becomes unavoidable. Most contemporary methods for linkage analysis are based on the Lander-Green hidden Markov model (HMM), which scales exponentially with the number of pedigree members. In whole genome linkage analysis, genotype simulations become prohibitively time consuming to perform on single computers. We have developed 'Grid-Allegro', a Grid aware implementation of the Allegro software, by which several thousands of genotype simulations can be performed in parallel in short time. With temporary installations of the Allegro executable and datasets on remote nodes at submission, the need of predefined Grid run-time environments is circumvented. We evaluated the performance, efficiency and scalability of this implementation in a genome scan on Swedish multiplex Alzheimer's disease families. We demonstrate that 'Grid-Allegro' allows for the full exploitation of the features available in Allegro for genome-wide linkage. The implementation of existing bioinformatics applications on Grids (Distributed Computing) represent a cost-effective alternative for addressing highly resource-demanding and data-intensive bioinformatics task, compared to acquiring and setting up clusters of computational hardware in house (Parallel Computing), a resource not available to most geneticists today.</p>
  •  
10.
  • Barbron, Marie-Claude, et al. (författare)
  • Meta and pooled analysis of European coeliac disease data
  • 2003
  • Ingår i: European Journal of Human Genetics. - 1018-4813 .- 1476-5438. ; 11:11, s. 828-834
  • Tidskriftsartikel (refereegranskat)abstract
    • Four full genome scans have been carried out by the partners of the European cluster on coeliac disease as well as follow-up studies of candidate regions. No region outside HLA showed significant linkage to the disease in any single study. We first applied a meta-analysis based on a modification of Genome Screen Meta-Analysis to take into account the different linkage statistics, the arbitrariness of bin cutoff points, as well as the sample size of each study. We then performed a pooled linkage analysis of all families and raw genotypes. Besides the HLA region, already known to harbour a risk factor for coeliac disease, both approaches leave very little doubt on the presence of a genetic risk factor in the 5q31-33 region. This region was suggested by several individual studies, but did not reach statistical values high enough to be conclusive when data sets were analysed separately.
  •  
Skapa referenser, mejla, bekava och länka
Åtkomst
fritt online (27)
Typ av publikation
tidskriftsartikel (373)
konferensbidrag (27)
recension (4)
forskningsöversikt (3)
annan publikation (1)
Typ av innehåll
refereegranskat (355)
övrigt vetenskapligt (67)
Författare/redaktör
Kere, J (18)
Anderlid, BM, (13)
Gunnarsson, Iva (12)
Svenungsson, Elisabe ... (12)
Eloranta, Maija-Leen ... (12)
Syvänen, Ann-Christi ... (12)
visa fler...
Sandling, Johanna K. ... (12)
Nordgren, A, (11)
Bengtsson, Anders A, (10)
Rantapää-Dahlqvist, ... (10)
Gyllensten, Ulf (10)
Hillert, J, (9)
Nilsson, D, (9)
Nordenskjold, M, (9)
Rönnblom, Lars, (9)
Lindstrand, A (9)
Grigelioniene, G, (8)
Pedersen, NL, (7)
Groop, Leif, (7)
Sturfelt, Gunnar, (7)
Truedsson, Lennart (7)
Kere, Juha (7)
Andersson, Göran (7)
Wang, Chuan (7)
Criswell, Lindsey A. (7)
Padyukov, Leonid, (7)
Nordmark, Gunnel, (7)
Anderlid, B, (7)
Schoumans, J, (7)
Blennow, E, (7)
Ingvoldstad, Charlot ... (6)
Boomsma, DI (6)
Olsson, T. (6)
Kockum, I. (6)
Jönsen, Andreas, (6)
Wilbe, Maria, (6)
Lieden, A, (6)
Sjöwall, Christopher ... (6)
Eriksson, Catharina (6)
Annerén , Göran, (6)
Johansson, Åsa, (6)
Thomas, G (6)
Finkel, Y, (6)
Makitie, O, (6)
Peltonen, L (6)
Syvanen, Ann-Christi ... (6)
Tysk, C (6)
Eisfeldt, J, (6)
Kvarnung, M, (6)
Malmgren, H, (6)
visa färre...
Lärosäte
Karolinska Institutet (170)
Uppsala universitet (101)
Lunds universitet (51)
Umeå universitet (29)
Göteborgs universitet (23)
Linköpings universitet (17)
visa fler...
Kungliga Tekniska Högskolan (12)
Sveriges Lantbruksuniversitet (10)
Stockholms universitet (4)
Chalmers tekniska högskola (4)
Örebro universitet (3)
Jönköping University (2)
Högskolan i Skövde (2)
Ersta Sköndal Bräcke högskola (1)
visa färre...
Språk
Engelska (407)
Forskningsämne (UKÄ/SCB)
Medicin och hälsovetenskap (210)
Naturvetenskap (24)
Lantbruksvetenskap (5)
Samhällsvetenskap (4)
Teknik (2)
Humaniora (1)

År

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy