PopDel identifies medium-size deletions simultaneously in tens of thousands of genomes
Niehus, Sebastian, Jónsson, Hákon, Schönberger, Janina, Björnsson, Eythór, Beyter, Doruk, Eggertsson, Hannes P., Sulem, Patrick, Stefánsson, Kári, Halldórsson, Bjarni V., Kehr, Birte
Published in Nature communications (01.02.2021)
Published in Nature communications (01.02.2021)
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Journal Article
Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2
Haraldsdottir, Sigurdis, Rafnar, Thorunn, Frankel, Wendy L., Einarsdottir, Sylvia, Sigurdsson, Asgeir, Hampel, Heather, Snaebjornsson, Petur, Masson, Gisli, Weng, Daniel, Arngrimsson, Reynir, Kehr, Birte, Yilmaz, Ahmet, Haraldsson, Stefan, Sulem, Patrick, Stefansson, Tryggvi, Shields, Peter G., Sigurdsson, Fridbjorn, Bekaii-Saab, Tanios, Moller, Pall H., Steinarsdottir, Margret, Alexiusdottir, Kristin, Hitchins, Megan, Pritchard, Colin C., de la Chapelle, Albert, Jonasson, Jon G., Goldberg, Richard M., Stefansson, Kari
Published in Nature communications (03.05.2017)
Published in Nature communications (03.05.2017)
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The rate of meiotic gene conversion varies by sex and age
Halldorsson, Bjarni V, Hardarson, Marteinn T, Kehr, Birte, Styrkarsdottir, Unnur, Gylfason, Arnaldur, Thorleifsson, Gudmar, Zink, Florian, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Sulem, Patrick, Masson, Gisli, Thorsteinsdottir, Unnur, Helgason, Agnar, Kong, Augustine, Gudbjartsson, Daniel F, Stefansson, Kari
Published in Nature genetics (01.11.2016)
Published in Nature genetics (01.11.2016)
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Journal Article
popSTR: population-scale detection of STR variants
Kristmundsdóttir, Snædís, Sigurpálsdóttir, Brynja D, Kehr, Birte, Halldórsson, Bjarni V
Published in Bioinformatics (Oxford, England) (15.12.2017)
Published in Bioinformatics (Oxford, England) (15.12.2017)
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Journal Article
Parental influence on human germline de novo mutations in 1,548 trios from Iceland
Jónsson, Hákon, Sulem, Patrick, Kehr, Birte, Kristmundsdottir, Snaedis, Zink, Florian, Hjartarson, Eirikur, Hardarson, Marteinn T., Hjorleifsson, Kristjan E., Eggertsson, Hannes P., Gudjonsson, Sigurjon Axel, Ward, Lucas D., Arnadottir, Gudny A., Helgason, Einar A., Helgason, Hannes, Gylfason, Arnaldur, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Rafnar, Thorunn, Frigge, Mike, Stacey, Simon N., Th. Magnusson, Olafur, Thorsteinsdottir, Unnur, Masson, Gisli, Kong, Augustine, Halldorsson, Bjarni V., Helgason, Agnar, Gudbjartsson, Daniel F., Stefansson, Kari
Published in Nature (London) (28.09.2017)
Published in Nature (London) (28.09.2017)
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Journal Article
The Collaborative Research Center FONDA
Leser, Ulf, Hilbrich, Marcus, Draxl, Claudia, Eisert, Peter, Grunske, Lars, Hostert, Patrick, Kainmüller, Dagmar, Kao, Odej, Kehr, Birte, Kehrer, Timo, Koch, Christoph, Markl, Volker, Meyerhenke, Henning, Rabl, Tilmann, Reinefeld, Alexander, Reinert, Knut, Ritter, Kerstin, Scheuermann, Björn, Schintke, Florian, Schweikardt, Nicole, Weidlich, Matthias
Published in Datenbank-Spektrum : Zeitschrift für Datenbanktechnologie : Organ der Fachgruppe Datenbanken der Gesellschaft für Informatik e.V (2021)
Published in Datenbank-Spektrum : Zeitschrift für Datenbanktechnologie : Organ der Fachgruppe Datenbanken der Gesellschaft für Informatik e.V (2021)
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Journal Article
Whole genome characterization of sequence diversity of 15,220 Icelanders
Jónsson, Hákon, Sulem, Patrick, Kehr, Birte, Kristmundsdottir, Snaedis, Zink, Florian, Hjartarson, Eirikur, Hardarson, Marteinn T., Hjorleifsson, Kristjan E., Eggertsson, Hannes P., Gudjonsson, Sigurjon Axel, Ward, Lucas D., Arnadottir, Gudny A., Helgason, Einar A., Helgason, Hannes, Gylfason, Arnaldur, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Rafnar, Thorunn, Besenbacher, Soren, Frigge, Michael L., Stacey, Simon N., Magnusson, Olafur Th, Thorsteinsdottir, Unnur, Masson, Gisli, Kong, Augustine, Halldorsson, Bjarni V., Helgason, Agnar, Gudbjartsson, Daniel F., Stefansson, Kari
Published in Scientific data (21.09.2017)
Published in Scientific data (21.09.2017)
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Journal Article
GGTyper: genotyping complex structural variants using short-read sequencing data
Mirus, Tim, Lohmayer, Robert, Döhring, Clementine, Halldórsson, Bjarni V, Kehr, Birte
Published in Bioinformatics (Oxford, England) (01.09.2024)
Published in Bioinformatics (Oxford, England) (01.09.2024)
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Journal Article
Parental influence on human germline de novo mutations in 1,548 trios from Iceland
Jónsson, Hákon, Sulem, Patrick, Kehr, Birte, Kristmundsdottir, Snaedis, Zink, Florian, Hjartarson, Eirikur, Hardarson, Marteinn T., Hjorleifsson, Kristjan E., Eggertsson, Hannes P., Gudjonsson, Sigurjon Axel, Ward, Lucas D., Arnadottir, Gudny A., Helgason, Einar A., Helgason, Hannes, Gylfason, Arnaldur, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Rafnar, Thorunn, Frigge, Mike, Stacey, Simon N., Th. Magnusson, Olafur, Thorsteinsdottir, Unnur, Masson, Gisli, Kong, Augustine, Halldorsson, Bjarni V., Helgason, Agnar, Gudbjartsson, Daniel F., Stefansson, Kari
Published in Nature (London) (28.09.2017)
Published in Nature (London) (28.09.2017)
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Journal Article
Early IFN-α signatures and persistent dysfunction are distinguishing features of NK cells in severe COVID-19
Krämer, Benjamin, Bonaguro, Lorenzo, ToVinh, Michael, Astaburuaga-García, Rosario, Schulte-Schrepping, Jonas, Kaiser, Kim Melanie, Rieke, Gereon J., Monin, Malte B., Hoffmeister, Christoph, Schlabe, Stefan, De Domenico, Elena, Reusch, Nico, Händler, Kristian, Reynolds, Gary, Hack, Gudrun, Finnemann, Claudia, Strassburg, Christian P., Stephenson, Emily, Su, Yapeng, Gardner, Louis, Yuan, Dan, Goldman, Jason, Hrusovsky, Kevin, Ball, Andrew J., Johnson, Joe M., Koenig, Paul-Albert, Schmidt, Florian I., Haniffa, Muzlifah, Kümmerer, Beate M., Keitel, Verena, Jensen, Björn, Sander, Leif E., Aschenbrenner, Anna C., Bals, Robert, Becker, Matthias, Bezdan, Daniela, Bitzer, Michael, Bork, Peer, Boyke, Bunk, Blum, Helmut, Colome-Tatche, Maria, Diefenbach, Andreas, Dilthey, Alexander, Franzenburg, Sören, Frick, Julia-Stefanie, Ganzenmueller, Tina, Gauder, Marie, Grundhoff, Adam, Grundmann, Hajo, Hanses, Frank, Hehr, Ute, Heimbach, André, Horn, Friedemann, Iftner, Angelika, Illig, Thomas, Janssen, Stefan, Kalinowski, Jörn, Keller, Andreas, Kim-Hellmuth, Sarah, Klein, Christoph, Knop, Michael, Kohlbacher, Oliver, Köhrer, Karl, Kühnert, Denise, Kurth, Ingo, Landthaler, Markus, Li, Yang, Makarewicz, Oliwia, McHardy, Alice C., Mertes, Christian, Münchhoff, Maximilian, Nahnsen, Sven, Ntoumi, Francine, Ossowski, Stephan, Overmann, Jörg, Peter, Silke, Pfeffer, Klaus, Pink, Isabell, Poetsch, Anna R., Protzer, Ulrike, Rajewsky, Nikolaus, Ripke, Stephan, Nunes da Rocha, Ulisses, Rosenstiel, Philip, Sander, Leif Erik, Sawitzki, Birgit, Schiffer, Philipp, Schmid-Burgk, Jonathan, Schultze, Joachim L., Sczyrba, Alexander, Sharaf, Mariam L., Singh, Yogesh, Stegle, Oliver, Ulas, Thomas, Velavan, Thirumalaisamy P., Vogel, Jörg, Wieczorek, Dagmar, Winkler, Sylke, Aschenbrenner, Anna C., Schultze, Joachim L.
Published in Immunity (Cambridge, Mass.) (09.11.2021)
Published in Immunity (Cambridge, Mass.) (09.11.2021)
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Journal Article
Graphtyper enables population-scale genotyping using pangenome graphs
Eggertsson, Hannes P, Jonsson, Hakon, Kristmundsdottir, Snaedis, Hjartarson, Eirikur, Kehr, Birte, Masson, Gisli, Zink, Florian, Hjorleifsson, Kristjan E, Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Jonsdottir, Ingileif, Gudbjartsson, Daniel F, Melsted, Pall, Stefansson, Kari, Halldorsson, Bjarni V
Published in Nature genetics (01.11.2017)
Published in Nature genetics (01.11.2017)
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Journal Article
Genome alignment with graph data structures: a comparison
Kehr, Birte, Trappe, Kathrin, Holtgrewe, Manuel, Reinert, Knut
Published in BMC bioinformatics (09.04.2014)
Published in BMC bioinformatics (09.04.2014)
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Journal Article
Multiple transmissions of de novo mutations in families
Jónsson, Hákon, Sulem, Patrick, Arnadottir, Gudny A., Pálsson, Gunnar, Eggertsson, Hannes P., Kristmundsdottir, Snaedis, Zink, Florian, Kehr, Birte, Hjorleifsson, Kristjan E., Jensson, Brynjar Ö., Jonsdottir, Ingileif, Marelsson, Sigurdur Einar, Gudjonsson, Sigurjon Axel, Gylfason, Arnaldur, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Stacey, Simon N., Magnusson, Olafur Th, Thorsteinsdottir, Unnur, Masson, Gisli, Kong, Augustine, Halldorsson, Bjarni V., Helgason, Agnar, Gudbjartsson, Daniel F., Stefansson, Kari
Published in Nature genetics (01.12.2018)
Published in Nature genetics (01.12.2018)
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Journal Article
GAMIBHEAR: whole-genome haplotype reconstruction from Genome Architecture Mapping data
Markowski, Julia, Kempfer, Rieke, Kukalev, Alexander, Irastorza-Azcarate, Ibai, Loof, Gesa, Kehr, Birte, Pombo, Ana, Rahmann, Sven, Schwarz, Roland F
Published in Bioinformatics (Oxford, England) (11.10.2021)
Published in Bioinformatics (Oxford, England) (11.10.2021)
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