By Donald Macintyre, Labour Correspondent, By Michael Prest, From Our Correspondent, From Rupert Morris, From Patricia Clough, By Anthony Hilton, From Leslie Plommer, By Anthony Bevins Political Correspondent, By Anthony Bevins, Political Correspondent, By Philippa Toomey, From Jonathan Wills, By Alan Hamilton, By Michael Baily, From a Correspondent, By our Medical Correspondent, By the Staff of "Nature", By Ronald Faux, By David Walker, By Jonathan Davis Energy Correspondent, By Norman Hammond Archaeology Correspondent, From Nicholas Ashford, From Robert Fisk, By Henry Stanhope, Diplomatic Correspondent, From Mohsin Ali, From Michael Hamlyn, By Rodney Cowton, Defence Correspondent, From Diana Geddes, From Pastricia Clough, From Neil Kelly, From Our Own Correspondent, From David Watts, From George Clark, PHS, Anthony Smith, David Steel, Juan Lopez, John Ward, John Vincent, Susan Marling, JOHN KEMP, W. A. MORAN, B. K. TANNER., J. R. C. HIGGINS, LEN JAMES, MARGARET A SELBY, HILARY BRADT, I.H.S. BLAXTER, JENNY SURREY, HARRY STOPES-ROE, CHRISTOPHER JACKSON, ANTHONY MONTAGUE, BROWNE, F. G. T. HOLLIDAY, BRUCE DOWLING, MARTIN KNAPP, Bishop Oliver, Tomkins, By Kenneth Gosling, City Editor Anthony Hilton, From Maxwell Newton, By Barrie Clement, By Drew Johnston, From John Earle, Drew Johnston, EDITED BY LORNA BOURKE, Lorna Bourke, Charles Fry, John Higgins, Michael Church, Brian Appleyard, Peter Vansittart, By Peter West, Rugby Correspondent, By David Hands, By Stuart Jones, Football Correspondent, By Sydney Friskin, By Keith Macklin, From John Hennessy, Golf Correspondent, By Lewine Mair, By Pat Butcher, From Srikumar Sen, Boxing Correspondent, By Nicholas Harling, By Athole Still, By Michael Phillips, Racing Correspondent, By Michael Phillips, From Desmond Stoneham, By Michael Seely, From Our Irish Correspondent, By a Special Correspondent, By Pamela Macgregor-Morris, Edited by Peter Dear, Clive Aslet, Peter Waymark, Shona Crawford Poole, Derek Harris, Clifford Webb, Ashley Stephenson, Robin Young, Jane MacQuitty, Marcel Berlins, Anthony Masters, Ned Chaillet, Max Harrison, Geoff Brown, Jeremy Flint, Judy Froshaug, Mel Lewis, Edward Lucie-Smith, Harry Golombek,
... Architectural projects in developing countries, Christian Ferras, Dr Kristjan Eldjarn, John Gardner, Professor David Douglas. Business and Finance: ...
1982 - Gale Group | TDA
Hákon Jónsson, Patrick Sulem, Birte Kehr, Snædís Kristmundsdóttir, Florian Zink, Eirikur Hjartarson, Marteinn T. Hardarson, Kristján Eldjárn Hjörleifsson, Hannes P. Eggertsson, Sigurjón A. Guðjónsson, Lucas D. Ward, Gudny A. Arnadottir, Einar A. Helgason, Hannes Helgason, Arnaldur Gylfason, Aðalbjörg Jónasdóttir, Áslaug Jónasdóttir, Þórunn Rafnar, Søren Besenbacher, Michael L. Frigge, Simon Stacey, Ólafur Þ. Magnússon, Unnur Þorsteinsdóttir, Gísli Másson, Augustine Kong, Bjarni V. Halldórsson, Agnar Helgason, Daníel F. Guðbjartsson, Kári Stéfansson,
Abstract 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 set to 15,220 Icelanders who we sequenced to an average genome-wide coverage of 34X. We identified 39,020,168 autosomal variants passing GATK filters: 31,079,378 SNPs and 7,940,790 indels. Calling de novo mutations (DNMs) is a formidable challenge given the high false positive rate in sequencing datasets relative ...
Tópico(s): Cancer Genomics and Diagnostics
2017 - Nature Portfolio | Scientific Data
Hannes P. Eggertsson, Hákon Jónsson, Snædís Kristmundsdóttir, Eirikur Hjartarson, Birte Kehr, Gísli Másson, Florian Zink, Kristján Eldjárn Hjörleifsson, Áslaug Jónasdóttir, Aðalbjörg Jónasdóttir, Ingileif Jónsdóttir, Daníel F. Guðbjartsson, Páll Melsted, Kári Stéfansson, Bjarni V. Halldórsson,
Tópico(s): Genomics and Rare Diseases
2017 - Nature Portfolio | Nature Genetics
Hákon Jónsson, Patrick Sulem, Birte Kehr, Snædís Kristmundsdóttir, Florian Zink, Eirikur Hjartarson, Marteinn T. Hardarson, Kristján Eldjárn Hjörleifsson, Hannes P. Eggertsson, Sigurjón A. Guðjónsson, Lucas D. Ward, Gudny A. Arnadottir, Einar A. Helgason, Hannes Helgason, Arnaldur Gylfason, Aðalbjörg Jónasdóttir, Áslaug Jónasdóttir, Þórunn Rafnar, Mike Frigge, Simon Stacey, Ólafur Þ. Magnússon, Unnur Þorsteinsdóttir, Gísli Másson, Augustine Kong, Bjarni V. Halldórsson, Agnar Helgason, Daníel F. Guðbjartsson, Kári Stéfansson,
Tópico(s): Genomic variations and chromosomal abnormalities
2017 - Nature Portfolio | Nature
Hákon Jónsson, Patrick Sulem, Gudny A. Arnadottir, Gunnar Pálsson, Hannes P. Eggertsson, Snædís Kristmundsdóttir, Florian Zink, Birte Kehr, Kristján Eldjárn Hjörleifsson, Brynjar Ö. Jensson, Ingileif Jónsdóttir, Sigurdur Einar Marelsson, Sigurjón A. Guðjónsson, Arnaldur Gylfason, Aðalbjörg Jónasdóttir, Áslaug Jónasdóttir, Simon Stacey, Ólafur Þ. Magnússon, Unnur Þorsteinsdóttir, Gísli Másson, Augustine Kong, Bjarni V. Halldórsson, Agnar Helgason, Daníel F. Guðbjartsson, Kári Stéfansson,
De novo mutations (DNMs) cause a large proportion of severe rare diseases of childhood. DNMs that occur early may result in mosaicism of both somatic and germ cells. Such early mutations can cause recurrence of disease. We scanned 1,007 sibling pairs from 251 families and identified 878 DNMs shared by siblings (ssDNMs) at 448 genomic sites. We estimated DNM recurrence probability based on parental mosaicism, sharing of DNMs among siblings, parent-of-origin, mutation type and genomic position. We detected ...
Tópico(s): Genomic variations and chromosomal abnormalities
2018 - Nature Portfolio | Nature Genetics
Rósa B. Þórólfsdóttir, Garðar Sveinbjörnsson, Hildur M. Aegisdottir, Stefania Benónísdóttir, Lilja Stefánsdóttir, Erna V. Ivarsdottir, Gísli H. Halldórsson, Jon K. Sigurdsson, Christian Torp‐Pedersen, Peter Weeke, Søren Brunak, David Westergaard, Ole Birger Pedersen, Erik Sørensen, Kaspar René Nielsen, Kristoffer Sølvsten Burgdorf, Karina Banasik, Ben Brumpton, Wei Zhou, Ásmundur Oddsson, Vinicius Tragante, Kristján Eldjárn Hjörleifsson, Olafur B. Davidsson, Sridharan Rajamani, Stefan Jonsson, Bjarni Torfason, Atli S. Valgardsson, Guðmundur Þorgeirsson, Michael L. Frigge, Guðmar Þorleifsson, Gudmundur L. Norddahl, Anna Helgadóttir, Sólveig Grétarsdóttir, Patrick Sulem, Ingileif Jónsdóttir, Cristen J. Willer, Kristian Hveem, Henning Bundgaard, Henrik Ullum, Davíð O. Arnar, Unnur Þorsteinsdóttir, Daníel F. Guðbjartsson, Hilma Hólm, Kári Stéfansson, Steffen Andersen, Christian Erikstrup, Thomas Hansen, Henrik Hjalgrim, Gregor B. E. Jemec, Poul Jennum, Mette Nyegaard, Mie Topholm Bruun, Mikkel Steen Petersen, Thomas Werge, Pär I. Johansson,
Abstract Aims The aim of this study was to use human genetics to investigate the pathogenesis of sick sinus syndrome (SSS) and the role of risk factors in its development. Methods and results We performed a genome-wide association study of 6469 SSS cases and 1 000 187 controls from deCODE genetics, the Copenhagen Hospital Biobank, UK Biobank, and the HUNT study. Variants at six loci associated with SSS, a reported missense variant in MYH6, known atrial fibrillation (AF)/electrocardiogram variants ...
Tópico(s): Biochemical Analysis and Sensing Techniques
2021 - Oxford University Press | European Heart Journal
Thorhildur Juliusdottir, Valgerður Steinthórsdóttir, Lilja Stefánsdóttir, Garðar Sveinbjörnsson, Erna V. Ivarsdottir, Rósa B. Þórólfsdóttir, Jon K. Sigurdsson, Vinicius Tragante, Kristján Eldjárn Hjörleifsson, Anna Helgadóttir, Michael L. Frigge, Guðmundur Þorgeirsson, Rafn Benediktsson, Engilbert Sigurðsson, Davíð O. Arnar, Þóra Steingrímsdóttir, Ingileif Jónsdóttir, Hilma Hólm, Daníel F. Guðbjartsson, Guðmar Þorleifsson, Unnur Þorsteinsdóttir, Kári Stéfansson,
Tópico(s): Gestational Diabetes Research and Management
2021 - Nature Portfolio | Nature Genetics
Páll Melsted, A. Sina Booeshaghi, Lauren P. Liu, Fan Gao, Lambda Lu, Kyung Hoi Min, Eduardo da Veiga Beltrame, Kristján Eldjárn Hjörleifsson, Jase Gehring, Lior Pachter,
We describe a workflow for preprocessing of single-cell RNA-sequencing data that balances efficiency and accuracy. Our workflow is based on the kallisto and bustools programs, and is near optimal in speed with a constant memory requirement providing scalability for arbitrarily large datasets. The workflow is modular, and we demonstrate its flexibility by showing how it can be used for RNA velocity analyses. A preprocessing workflow for single-cell RNA-seq data achieves near-optimal speed.
Tópico(s): CRISPR and Genetic Engineering
2021 - Nature Portfolio | Nature Biotechnology
Erna V. Ivarsdottir, Hilma Hólm, Stefania Benónísdóttir, Þórhildur Ólafsdóttir, Garðar Sveinbjörnsson, Guðmar Þorleifsson, Hannes P. Eggertsson, Gísli H. Halldórsson, Kristján Eldjárn Hjörleifsson, Páll Melsted, Arnaldur Gylfason, Gudny A. Arnadottir, Ásmundur Oddsson, Brynjar Ö. Jensson, Áslaug Jónasdóttir, Aðalbjörg Jónasdóttir, Thorhildur Juliusdottir, Lilja Stefánsdóttir, Vinicius Tragante, Bjarni V. Halldórsson, Hannes Petersen, Guðmundur Þorgeirsson, Unnur Þorsteinsdóttir, Patrick Sulem, Ingibjorg Hinriksdottir, Ingileif Jónsdóttir, Daníel F. Guðbjartsson, Kári Stéfansson,
Abstract Age-related hearing impairment (ARHI) is the most common sensory disorder in older adults. We conducted a genome-wide association meta-analysis of 121,934 ARHI cases and 591,699 controls from Iceland and the UK. We identified 21 novel sequence variants, of which 13 are rare, under either additive or recessive models. Of special interest are a missense variant in LOXHD1 (MAF = 1.96%) and a tandem duplication in FBF1 covering 4 exons (MAF = 0.22%) associating with ARHI (OR = 3.7 for homozygotes, P = ...
Tópico(s): Cancer-related molecular mechanisms research
2021 - Nature Portfolio | Communications Biology
Hildur M. Aegisdottir, Rósa B. Þórólfsdóttir, Garðar Sveinbjörnsson, Ólafur Andri Stefánsson, Bjarni Gunnarsson, Vinicius Tragante, Guðmar Þorleifsson, Lilja Stefánsdóttir, Thorgeir E. Thorgeirsson, Egil Ferkingstad, Patrick Sulem, Gudmundur L. Norddahl, Gudrun Rutsdottir, Karina Banasik, Alex Hørby Christensen, Christina Mikkelsen, Ole Birger Pedersen, Søren Brunak, Mie Topholm Bruun, Christian Erikstrup, Rikke Louise Jacobsen, Kaspar René Nielsen, Erik Sørensen, Michael L. Frigge, Kristján Eldjárn Hjörleifsson, Erna V. Ivarsdottir, Anna Helgadóttir, Sólveig Grétarsdóttir, Valgerður Steinthórsdóttir, Ásmundur Oddsson, Hannes P. Eggertsson, Gísli H. Halldórsson, David A. Jones, Jeffrey L. Anderson, Kirk U. Knowlton, Lincoln Nadauld, Steffen Andersen, Kristoffer Sølvsten Burgdorf, Maria Didriksen, Khoa Manh Dinh, Thomas Hansen, Henrik Hjalgrim, Gregor B. E. Jemec, Poul Jennum, Pär I. Johansson, Margit Anita Hørup Larsen, Susan Mikkelsen, Mette Nyegaard, Hreinn Stefánsson, Susanne Gjørup Sækmose, Henrik Ullum, Thomas Werge, Karina Banasik, Ole Birger Pedersen, Søren Brunak, Mie Topholm Bruun, Christian Erikstrup, Kaspar René Nielsen, Erik Sørensen, Unnur Þorsteinsdóttir, Daníel F. Guðbjartsson, Sisse Rye Ostrowski, Kári Stéfansson, Magnús Haraldsson, Guðmundur Þorgeirsson, Henning Bundgaard, Davíð O. Arnar, Unnur Þorsteinsdóttir, Daníel F. Guðbjartsson, Sisse Rye Ostrowski, Hilma Hólm, Kári Stéfansson,
Abstract Aims Syncope is a common and clinically challenging condition. In this study, the genetics of syncope were investigated to seek knowledge about its pathophysiology and prognostic implications. Methods and results This genome-wide association meta-analysis included 56 071 syncope cases and 890 790 controls from deCODE genetics (Iceland), UK Biobank (United Kingdom), and Copenhagen Hospital Biobank Cardiovascular Study/Danish Blood Donor Study (Denmark), with a follow-up assessment of variants ...
Tópico(s): Hormonal Regulation and Hypertension
2023 - Oxford University Press | European Heart Journal
Kristján Eldjárn Hjörleifsson, Sölvi Rögnvaldsson, Hákon Jónsson, Arna B. Agustsdottir, Margrét B. Andrésdóttir, Kolbrún Birgisdottir, Ögmundur Eiríksson, Elías Eyþórsson, Rún Friðriksdóttir, G. Georgsson, Kjartan R. Guðmundsson, Arnaldur Gylfason, Gudbjorg Haraldsdottir, Brynjar Ö. Jensson, Adalbjorg Jonasdotti, Áslaug Jónasdóttir, Kamilla S. Josefsdottir, Nina Kristinsdottir, Borghildur Kristjansdottir, Þórður Kristjánsson, Droplaug N. Magnúsdóttir, Runólfur Pálsson, Louise le Roux, Gudrun M. Sigurbergsdottir, Ásgeir Sigurðsson, Martin I. Sigurðsson, Garðar Sveinbjörnsson, Emil Aron Thorarensen, Bjarni Thorbjornsson, Maríanna Þórðardóttir, Agnar Helgason, Hilma Hólm, Ingileif Jónsdóttir, Frosti Jónsson, Ólafur Þ. Magnússon, Gísli Másson, Gudmundur L. Norddahl, Jona Saemundsdottir, Patrick Sulem, Unnur Þorsteinsdóttir, Daníel F. Guðbjartsson, Páll Melsted, Kári Stéfansson,
Tópico(s): Vaccine Coverage and Hesitancy
2022 - Elsevier BV | Clinical Microbiology and Infection
... Kuml og haugfé úr heiðnum sið á Íslandi . Kristján Eldjárn Richard BeckRichard Beck Search for more articles by ...
Tópico(s): Historical Studies of British Isles
1958 - University of Chicago Press | Speculum
Delaney K. Sullivan, Kyung Hoi Min, Kristján Eldjárn Hjörleifsson, Laura Luebbert, Guillaume Holley, Lambda Moses, Johan Gustafsson, Nicolas Bray, Harold Pimentel, A. Sina Booeshaghi, Páll Melsted, Lior Pachter,
Tópico(s): Gene expression and cancer classification
2024 - Nature Portfolio | Nature Protocols
Hannes Helgason, Thjodbjorg Eiriksdottir, Magnús Ö. Úlfarsson, Abhishek Choudhary, Sigrún H. Lund, Erna V. Ivarsdottir, Grímur Hjörleifsson Eldjárn, Guðmundur Einarsson, Egil Ferkingstad, Kristjan H. S. Moore, Narimon Honarpour, Thomas Liu, Huei Wang, Thomas Hucko, Marc S. Sabatine, David A. Morrow, Robert P. Giugliano, Sisse Rye Ostrowski, Ole Birger Pedersen, Henning Bundgaard, Christian Erikstrup, Davíð O. Arnar, Guðmundur Þorgeirsson, Gísli Másson, Ólafur Þ. Magnússon, Jona Saemundsdottir, Sólveig Grétarsdóttir, Valgerður Steinthórsdóttir, Guðmar Þorleifsson, Anna Helgadóttir, Patrick Sulem, Unnur Þorsteinsdóttir, Hilma Hólm, Daníel F. Guðbjartsson, Kári Stéfansson,
Importance Whether protein risk scores derived from a single plasma sample could be useful for risk assessment for atherosclerotic cardiovascular disease (ASCVD), in conjunction with clinical risk factors and polygenic risk scores, is uncertain. Objective To develop protein risk scores for ASCVD risk prediction and compare them to clinical risk factors and polygenic risk scores in primary and secondary event populations. Design, Setting, and Participants The primary analysis was a retrospective study ...
Tópico(s): Genetic Associations and Epidemiology
2023 - American Medical Association | JAMA
... Stjórnarmyndanir, stjórnarslit og staða forseta Íslands í embættistíð Kristjáns Eldjárns, 1968-1980. Bókin er að nokkru leyti byggð á dagbókum, minnisblöðum og hugleiðingum Kristjáns sem hann las á segulband. Höfundur leitar þó ...
Tópico(s): European Socioeconomic and Political Studies
2005 - University of Iceland | Icelandic Review of Politics & Administration
... in early Christian times in the Northern countries.Kristjan Eldjarn
Tópico(s): Historical and Archaeological Studies
1970 - | Kuml
The State Antiquary of Iceland, Kristján Eldjárn, M.A., published in January this year a fine volume containing a report of his recent excavations of pagan graves, and ...
1949 - Cambridge University Press | Antiquity
... in early Christian times in the Northern countries.Kristján Eldjárn
Tópico(s): Historical and Archaeological Studies
1970 - | Kuml
Gyða Björnsdóttir, Mona Ameri Chalmer, Lilja Stefánsdóttir, Ástrós Th. Skúladóttir, Guðmundur Einarsson, Margrét B. Andrésdóttir, Doruk Beyter, Egil Ferkingstad, Sólveig Grétarsdóttir, Bjarni V. Halldórsson, Gísli H. Halldórsson, Anna Helgadóttir, Hannes Helgason, Grímur Hjörleifsson Eldjárn, Aðalbjörg Jónasdóttir, Áslaug Jónasdóttir, Ingileif Jónsdóttir, Kirk U. Knowlton, Lincoln Nadauld, Sigrún H. Lund, Ólafur Þ. Magnússon, Páll Melsted, Kristjan H. S. Moore, Ásmundur Oddsson, Pall I. Olason, Ásgeir Sigurðsson, Ólafur Andri Stefánsson, Jona Saemundsdottir, Garðar Sveinbjörnsson, Vinicius Tragante, Unnur Unnsteinsdóttir, G. Bragi Walters, Florian Zink, Linn Rødevand, Ole A. Andreassen, Jannicke Igland, Rolv T. Lie, Jan Haavik, Karina Banasik, Søren Brunak, Maria Didriksen, Mie Topholm Bruun, Christian Erikstrup, Lisette J. A. Kogelman, Kaspar René Nielsen, Erik Sørensen, Ole Birger Pedersen, Henrik Ullum, Jakob Thaning Bay, Jens Kjærgaard Boldsen, Thorsten Brodersen, Kristoffer Sølvsten Burgdorf, Khoa Manh Dinh, Joseph Dowsett, Bjarke Feenstra, Frank Geller, Lotte Hindhede, Henrik Hjalgrim, Rikke Louise Jacobsen, Gregor B. E. Jemec, Kathrine Agergård Kaspersen, Bertram D. Kjerulf, Margit Anita Hørup Larsen, Ioannis Louloudis, Agnete Troen Lundgaard, Susan Mikkelsen, Christina Mikkelsen, Janna Nissen, Mette Nyegaard, Alexander Pil Henriksen, Palle Duun Rohde, Klaus Rostgaard, Michael Swinn, Lise Wegner Thørner, Mie Topholm Bruun, Thomas Werge, David Westergaard, Gísli Másson, Unnur Þorsteinsdóttir, Jes Olesen, Pétur Lúðvígsson, Ólafur Thorarensen, Anna Bjornsdottir, Gudrun R. Sigurdardottir, Ólafur Sveinsson, Sisse Rye Ostrowski, Hilma Hólm, Daníel F. Guðbjartsson, Guðmar Þorleifsson, Patrick Sulem, Hreinn Stefánsson, Thorgeir E. Thorgeirsson, Thomas Hansen, Kári Stéfansson,
Abstract Migraine is a complex neurovascular disease with a range of severity and symptoms, yet mostly studied as one phenotype in genome-wide association studies (GWAS). Here we combine large GWAS datasets from six European populations to study the main migraine subtypes, migraine with aura (MA) and migraine without aura (MO). We identified four new MA-associated variants (in PRRT2 , PALMD , ABO and LRRK2 ) and classified 13 MO-associated variants. Rare variants with large effects highlight three genes. ...
Tópico(s): Thyroid Disorders and Treatments
2023 - Nature Portfolio | Nature Genetics
Tópico(s): Ancient Mediterranean Archaeology and History
1960 - University of Toronto Press | Canadian Historical Review
Find information about UTP Journals. University of Toronto Press is Canada’s leading academic publisher and one of the largest university presses in North America, with particular strengths in the social sciences, humanities, and business. The Book Publishing Division is widely recognized in Canada for its strength in history, political science, sociology, Indigenous studies, and cultural studies. Internationally, UTP is a leading publisher of medieval, Renaissance, Italian, Iberian, Slavic, and ...
1960 - University of Toronto Press | Canadian Historical Review
Radomír Pleiner, Sigrid Hillern Hanssen Kaland,
... Winston, Arne Emil Christensen Jr., Kari E. Hennengsmoen, Kristjan Eldjarn, Reidar Nydal, Leif M. Paulsen, Rolf Petré and ...
Tópico(s): Historical and Archaeological Studies
1982 - Routledge | Norwegian Archaeological Review
... Iceland, he meets yet another Arnason relative, Thorarinn Kristjan Eldjarn, father of the third President of Iceland. On ...
Tópico(s): Canadian Identity and History
2011 - | Canadian ethnic studies
... Oddaverja þáttr) and Jón Jóhannesson, Magnús Finnbogason, and Kristján Eldjárn in Sturlunga saga (Prestssaga Guðmundar góða).The translations ...
Tópico(s): Linguistics and language evolution
2023 - University of Illinois Press | Scandinavian Studies
Laura Luebbert, Delaney K. Sullivan, Maria Carilli, Kristján Eldjárn Hjörleifsson, Alexander Viloria Winnett, Tara Chari, Lior Pachter,
Tópico(s): Bacteriophages and microbial interactions
2025 - Nature Portfolio | Nature Biotechnology
Stefán Einarsson, Kristján Eldjárn,
Tópico(s): Research in Social Sciences
1964 - University of Oklahoma | Books Abroad
Grose Evans, Kristjan Eldjarn,
1962 - Taylor & Francis | Art Education
Hans Weltzer, Fin Agersted, Juhani Myyrä, Andri Ísaksson, Thurídur J. Kristjánsdottir, Kristján Eldjárn, Vilhjálmur Hjálmarsson, Randi Jerger, Karl-Gunnar Skoog,
1977 - Taylor & Francis | Nordisk Psykologi
Delaney K. Sullivan, Kristján Eldjárn Hjörleifsson, Nikhila Swarna, Conrad Oakes, Guillaume Holley, Páll Melsted, Lior Pachter,
In single-cell and single-nucleus RNA sequencing (RNA-seq), the coexistence of nascent (unprocessed) and mature (processed) messenger RNA (mRNA) poses challenges in accurate read mapping and the interpretation of count matrices. The traditional transcriptome reference, defining the "region of interest" in bulk RNA-seq, restricts its focus to mature mRNA transcripts. This restriction leads to two problems: reads originating outside of the "region of interest" are prone to mismapping within this region, ...
Tópico(s): RNA Research and Splicing
2024 - Oxford University Press | Nucleic Acids Research
Saedís Saevarsdóttir, Kristbjörg Bjarnadóttir, Thorsteinn Markusson, Jonas Berglund, Thorunn A. Olafsdottir, Gísli H. Halldórsson, Gudrun Rutsdottir, Kristbjörg Gunnarsdóttir, Asgeir Ö. Arnthórsson, Sigrún H. Lund, Lilja Stefánsdóttir, Jūlı́us Guðmundsson, Ari Jóhannesson, Árni Sturluson, Ásmundur Oddsson, Bjarni V. Halldórsson, Bjórn R. Lúdvíksson, Egil Ferkingstad, Erna V. Ivarsdottir, Garðar Sveinbjörnsson, Gerður Gröndal, Gísli Másson, Grímur Hjörleifsson Eldjárn, Guðmundur Á. Þórisson, Katla Kristjánsdóttir, Kirk U. Knowlton, Kristjan H. S. Moore, Sigurjón A. Guðjónsson, Sölvi Rögnvaldsson, Stacey Knight, Lincoln Nadauld, Hilma Hólm, Ólafur Þ. Magnússon, Patrick Sulem, Daníel F. Guðbjartsson, Þórunn Rafnar, Guðmar Þorleifsson, Páll Melsted, Gudmundur L. Norddahl, Ingileif Jónsdóttir, Kári Stéfansson,
Abstract Autoimmune thyroid disease (AITD) is a common autoimmune disease. In a GWAS meta-analysis of 110,945 cases and 1,084,290 controls, 290 sequence variants at 225 loci are associated with AITD. Of these variants, 115 are previously unreported. Multiomics analysis yields 235 candidate genes outside the MHC-region and the findings highlight the importance of genes involved in T-cell regulation. A rare 5’-UTR variant (rs781745126-T, MAF = 0.13% in Iceland) in LAG3 has the largest effect (OR = 3.42, ...
Tópico(s): T-cell and B-cell Immunology
2024 - Nature Portfolio | Nature Communications