Hasil Pencarian - Lars Feuk

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  1. 1
    Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants

    Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants oleh Joakim Klar, Helene Engstrand-Lilja, Khurram Maqbool, Jonas Mattisson, Lars Feuk, Niklas Dahl

    Diterbitkan 2020-06-01
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  2. 2
    Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family

    Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family oleh Eva Lindholm Carlström, Jonatan Halvardson, Mitra Etemadikhah, Lennart Wetterberg, Karl-Henrik Gustavson, Lars Feuk

    Diterbitkan 2019-11-01
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  3. 3
    Characterization of the nuclear and cytosolic transcriptomes in human brain tissue reveals new insights into the subcellular distribution of RNA transcripts

    Characterization of the nuclear and cytosolic transcriptomes in human brain tissue reveals new insights into the subcellular distribution of RNA transcripts oleh Ammar Zaghlool, Adnan Niazi, Åsa K. Björklund, Jakub Orzechowski Westholm, Adam Ameur, Lars Feuk

    Diterbitkan 2021-02-01
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  4. 4
    Correction: Copy number of pancreatic polypeptide receptor gene NPY4R correlates with body mass index and waist circumference.

    Correction: Copy number of pancreatic polypeptide receptor gene NPY4R correlates with body mass index and waist circumference. oleh Kateryna Shebanits, Johanna C Andersson-Assarsson, Ingrid Larsson, Lena M S Carlsson, Lars Feuk, Dan Larhammar

    Diterbitkan 2022-01-01
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  5. 5
    Copy number of pancreatic polypeptide receptor gene NPY4R correlates with body mass index and waist circumference.

    Copy number of pancreatic polypeptide receptor gene NPY4R correlates with body mass index and waist circumference. oleh Kateryna Shebanits, Johanna C Andersson-Assarsson, Ingrid Larsson, Lena M S Carlsson, Lars Feuk, Dan Larhammar

    Diterbitkan 2018-01-01
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  6. 6
    Multi-Omic Investigations of a 17–19 Translocation Links <i>MINK1</i> Disruption to Autism, Epilepsy and Osteoporosis

    Multi-Omic Investigations of a 17–19 Translocation Links <i>MINK1</i> Disruption to Autism, Epilepsy and Osteoporosis oleh Jesper Eisfeldt, Jakob Schuy, Eva-Lena Stattin, Malin Kvarnung, Anna Falk, Lars Feuk, Anna Lindstrand

    Diterbitkan 2022-08-01
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  7. 7
    Copy number determination of the gene for the human pancreatic polypeptide receptor NPY4R using read depth analysis and droplet digital PCR

    Copy number determination of the gene for the human pancreatic polypeptide receptor NPY4R using read depth analysis and droplet digital PCR oleh Kateryna Shebanits, Torsten Günther, Anna C. V. Johansson, Khurram Maqbool, Lars Feuk, Mattias Jakobsson, Dan Larhammar

    Diterbitkan 2019-06-01
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  8. 8
    From SARS-CoV-2 to Global Preparedness: A Graphical Interface for Standardised High-Throughput Bioinformatics Analysis in Pandemic Scenarios and Surveillance of Drug Resistance

    From SARS-CoV-2 to Global Preparedness: A Graphical Interface for Standardised High-Throughput Bioinformatics Analysis in Pandemic Scenarios and Surveillance of Drug Resistance oleh Tomas Cumlin, Ida Karlsson, Jonathan Haars, Maria Rosengren, Johan Lennerstrand, Maryna Pimushyna, Lars Feuk, Claes Ladenvall, Rene Kaden

    Diterbitkan 2024-06-01
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  9. 9
    R.ROSETTA: an interpretable machine learning framework

    R.ROSETTA: an interpretable machine learning framework oleh Mateusz Garbulowski, Klev Diamanti, Karolina Smolińska, Nicholas Baltzer, Patricia Stoll, Susanne Bornelöv, Aleksander Øhrn, Lars Feuk, Jan Komorowski

    Diterbitkan 2021-03-01
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  10. 10
    Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation

    Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation oleh Esmee ten Berk de Boer, Adam Ameur, Ignas Bunikis, Marlene Ek, Eva-Lena Stattin, Lars Feuk, Jesper Eisfeldt, Anna Lindstrand

    Diterbitkan 2024-04-01
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  11. 11
    Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies.

    Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies. oleh Lars Feuk, Jeffrey R MacDonald, Terence Tang, Andrew R Carson, Martin Li, Girish Rao, Razi Khaja, Stephen W Scherer

    Diterbitkan 2005-10-01
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  12. 12
    Interpretable Machine Learning Reveals Dissimilarities Between Subtypes of Autism Spectrum Disorder

    Interpretable Machine Learning Reveals Dissimilarities Between Subtypes of Autism Spectrum Disorder oleh Mateusz Garbulowski, Karolina Smolinska, Klev Diamanti, Gang Pan, Khurram Maqbool, Lars Feuk, Jan Komorowski, Jan Komorowski, Jan Komorowski, Jan Komorowski

    Diterbitkan 2021-02-01
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  13. 13
    CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations

    CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations oleh Ida Höijer, Anastasia Emmanouilidou, Rebecka Östlund, Robin van Schendel, Selma Bozorgpana, Marcel Tijsterman, Lars Feuk, Ulf Gyllensten, Marcel den Hoed, Adam Ameur

    Diterbitkan 2022-02-01
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  14. 14
    PB1709: A COMPLETE DIGITAL KARYOTYPE OF THE B-CELL LEUKEMIA REH CELL LINE RESOLVED BY LONG-READ SEQUENCING

    PB1709: A COMPLETE DIGITAL KARYOTYPE OF THE B-CELL LEUKEMIA REH CELL LINE RESOLVED BY LONG-READ SEQUENCING oleh Mariya Lysenkova Wiklander, Gustav Arvidsson, Ignas Bunikis, Anders Lundmark, Amanda Raine, Yanara Marincevic-Zuniga, Henrik Gezelius, Anna Bremer, Lars Feuk, Adam Ameur, Jessica Nordlund

    Diterbitkan 2023-08-01
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  15. 15
    Novel Y-Chromosome Long Non-Coding RNAs Expressed in Human Male CNS During Early Development

    Novel Y-Chromosome Long Non-Coding RNAs Expressed in Human Male CNS During Early Development oleh Martin M. Johansson, Philipp Pottmeier, Pascalina Suciu, Tauseef Ahmad, Ammar Zaghlool, Jonatan Halvardson, Elisabeth Darj, Elisabeth Darj, Lars Feuk, Christiane Peuckert, Christiane Peuckert, Elena Jazin

    Diterbitkan 2019-09-01
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  16. 16
    Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity

    Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity oleh Ida Höijer, Josefin Johansson, Sanna Gudmundsson, Chen-Shan Chin, Ignas Bunikis, Susana Häggqvist, Anastasia Emmanouilidou, Maria Wilbe, Marcel den Hoed, Marie-Louise Bondeson, Lars Feuk, Ulf Gyllensten, Adam Ameur

    Diterbitkan 2020-12-01
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  17. 17
    Long-read whole-genome analysis of human single cells

    Long-read whole-genome analysis of human single cells oleh Joanna Hård, Jeff E. Mold, Jesper Eisfeldt, Christian Tellgren-Roth, Susana Häggqvist, Ignas Bunikis, Orlando Contreras-Lopez, Chen-Shan Chin, Jessica Nordlund, Carl-Johan Rubin, Lars Feuk, Jakob Michaëlsson, Adam Ameur

    Diterbitkan 2023-08-01
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  18. 18
    Genomic, transcriptomic and epigenomic sequencing data of the B-cell leukemia cell line REH

    Genomic, transcriptomic and epigenomic sequencing data of the B-cell leukemia cell line REH oleh Mariya Lysenkova Wiklander, Elin Övernäs, Johanna Lagensjö, Amanda Raine, Anna Petri, Ann-Christin Wiman, Jon Ramsell, Yanara Marincevic-Zuniga, Henrik Gezelius, Tom Martin, Ignas Bunikis, Sara Ekberg, Rikard Erlandsson, Pontus Larsson, Mai-Britt Mosbech, Susana Häggqvist, Susanne Hellstedt Kerje, Lars Feuk, Adam Ameur, Ulrika Liljedahl, Jessica Nordlund

    Diterbitkan 2023-10-01
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  19. 19
    The diploid genome sequence of an individual human.

    The diploid genome sequence of an individual human. oleh Samuel Levy, Granger Sutton, Pauline C Ng, Lars Feuk, Aaron L Halpern, Brian P Walenz, Nelson Axelrod, Jiaqi Huang, Ewen F Kirkness, Gennady Denisov, Yuan Lin, Jeffrey R MacDonald, Andy Wing Chun Pang, Mary Shago, Timothy B Stockwell, Alexia Tsiamouri, Vineet Bafna, Vikas Bansal, Saul A Kravitz, Dana A Busam, Karen Y Beeson, Tina C McIntosh, Karin A Remington, Josep F Abril, John Gill, Jon Borman, Yu-Hui Rogers, Marvin E Frazier, Stephen W Scherer, Robert L Strausberg, J Craig Venter

    Diterbitkan 2007-09-01
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