Hasil Pencarian - Konrad J Karczewski

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  1. 1
    Chapter 7: Pharmacogenomics.

    Chapter 7: Pharmacogenomics. oleh Konrad J Karczewski, Konrad J Karczewski, Roxana Daneshjou, Russ B Altman

    Diterbitkan 2012-01-01
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  2. 2
    Ten Simple Rules to Enable Multi-site Collaborations through Data Sharing.

    Ten Simple Rules to Enable Multi-site Collaborations through Data Sharing. oleh Mary Regina Boland, Konrad J Karczewski, Nicholas P Tatonetti

    Diterbitkan 2017-01-01
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  3. 3
    Evidence that personal genome testing enhances student learning in a course on genomics and personalized medicine.

    Evidence that personal genome testing enhances student learning in a course on genomics and personalized medicine. oleh Keyan Salari, Konrad J Karczewski, Louanne Hudgins, Kelly E Ormond

    Diterbitkan 2013-01-01
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  4. 4
    Coherent functional modules improve transcription factor target identification, cooperativity prediction, and disease association.

    Coherent functional modules improve transcription factor target identification, cooperativity prediction, and disease association. oleh Konrad J Karczewski, Michael Snyder, Russ B Altman, Nicholas P Tatonetti

    Diterbitkan 2014-02-01
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  5. 5
    Human genetic analyses of organelles highlight the nucleus in age-related trait heritability

    Human genetic analyses of organelles highlight the nucleus in age-related trait heritability oleh Rahul Gupta, Konrad J Karczewski, Daniel Howrigan, Benjamin M Neale, Vamsi K Mootha

    Diterbitkan 2021-09-01
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  6. 6
    STORMSeq: an open-source, user-friendly pipeline for processing personal genomics data in the cloud.

    STORMSeq: an open-source, user-friendly pipeline for processing personal genomics data in the cloud. oleh Konrad J Karczewski, Guy Haskin Fernald, Alicia R Martin, Michael Snyder, Nicholas P Tatonetti, Joel T Dudley

    Diterbitkan 2014-01-01
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  7. 7
    The evolutionary impact of childhood cancer on the human gene pool

    The evolutionary impact of childhood cancer on the human gene pool oleh Ulrik Kristoffer Stoltze, Jon Foss-Skiftesvik, Thomas van Overeem Hansen, Simon Rasmussen, Konrad J. Karczewski, Karin A. W. Wadt, Kjeld Schmiegelow

    Diterbitkan 2024-02-01
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  8. 8
    Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes

    Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes oleh Suganthi Balasubramanian, Yao Fu, Mayur Pawashe, Patrick McGillivray, Mike Jin, Jeremy Liu, Konrad J. Karczewski, Daniel G. MacArthur, Mark Gerstein

    Diterbitkan 2017-08-01
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  9. 9
    Small RNA Sequencing in Cells and Exosomes Identifies eQTLs and 14q32 as a Region of Active Export

    Small RNA Sequencing in Cells and Exosomes Identifies eQTLs and 14q32 as a Region of Active Export oleh Emily K. Tsang, Nathan S. Abell, Xin Li, Vanessa Anaya, Konrad J. Karczewski, David A. Knowles, Raymond G. Sierra, Kevin S. Smith, Stephen B. Montgomery

    Diterbitkan 2017-01-01
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  10. 10
    LoFTK: a framework for fully automated calculation of predicted Loss-of-Function variants and genes

    LoFTK: a framework for fully automated calculation of predicted Loss-of-Function variants and genes oleh Abdulrahman Alasiri, Konrad J. Karczewski, Brian Cole, Bao-Li Loza, Jason H. Moore, Sander W. van der Laan, Folkert W. Asselbergs, Brendan J. Keating, Jessica van Setten

    Diterbitkan 2023-02-01
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  11. 11
    Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

    Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes oleh Qingbo Wang, Emma Pierce-Hoffman, Beryl B. Cummings, Jessica Alföldi, Laurent C. Francioli, Laura D. Gauthier, Andrew J. Hill, Anne H. O’Donnell-Luria, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Konrad J. Karczewski, Daniel G. MacArthur

    Diterbitkan 2020-05-01
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  12. 12
    Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

    Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes oleh Qingbo Wang, Emma Pierce-Hoffman, Beryl B. Cummings, Jessica Alföldi, Laurent C. Francioli, Laura D. Gauthier, Andrew J. Hill, Anne H. O’Donnell-Luria, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Konrad J. Karczewski, Daniel G. MacArthur

    Diterbitkan 2021-02-01
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  13. 13
    Genetic meta-analysis of 15,901 African Americans identifies variation in EXOC3L1 is associated with HDL concentration[S]

    Genetic meta-analysis of 15,901 African Americans identifies variation in EXOC3L1 is associated with HDL concentration[S] oleh Matthew B. Lanktree, Clara C. Elbers, Yun Li, Guosheng Zhang, Qing Duan, Konrad J. Karczewski, Yiran Guo, Vinicius Tragante, Kari E. North, Mary Cushman, Folkert W. Asselbergs, James G. Wilson, Leslie A. Lange, Fotios Drenos, Alex P. Reiner, Michael R. Barnes, Brendan J. Keating

    Diterbitkan 2015-09-01
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  14. 14
    Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure

    Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure oleh Joel T. Rämö, Tuomo Kiiskinen, Richard Seist, Kristi Krebs, Masahiro Kanai, Juha Karjalainen, Mitja Kurki, Eija Hämäläinen, Paavo Häppölä, Aki S. Havulinna, Heidi Hautakangas, FinnGen, Reedik Mägi, Priit Palta, Tõnu Esko, Andres Metspalu, Matti Pirinen, Konrad J. Karczewski, Samuli Ripatti, Lili Milani, Konstantina M. Stankovic, Antti Mäkitie, Mark J. Daly, Aarno Palotie

    Diterbitkan 2023-01-01
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  15. 15
    Author Correction: Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

    Author Correction: Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals oleh Nicola Whiffin, Konrad J. Karczewski, Xiaolei Zhang, Sonia Chothani, Miriam J. Smith, D. Gareth Evans, Angharad M. Roberts, Nicholas M. Quaife, Sebastian Schafer, Owen Rackham, Jessica Alföldi, Anne H. O’Donnell-Luria, Laurent C. Francioli, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Stuart A. Cook, Paul J. R. Barton, Daniel G. MacArthur, James S. Ware

    Diterbitkan 2021-02-01
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  16. 16
    Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

    Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals oleh Nicola Whiffin, Konrad J. Karczewski, Xiaolei Zhang, Sonia Chothani, Miriam J. Smith, D. Gareth Evans, Angharad M. Roberts, Nicholas M. Quaife, Sebastian Schafer, Owen Rackham, Jessica Alföldi, Anne H. O’Donnell-Luria, Laurent C. Francioli, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Stuart A. Cook, Paul J. R. Barton, Daniel G. MacArthur, James S. Ware

    Diterbitkan 2020-05-01
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  17. 17
    Phased whole-genome genetic risk in a family quartet using a major allele reference sequence.

    Phased whole-genome genetic risk in a family quartet using a major allele reference sequence. oleh Frederick E Dewey, Rong Chen, Sergio P Cordero, Kelly E Ormond, Colleen Caleshu, Konrad J Karczewski, Michelle Whirl-Carrillo, Matthew T Wheeler, Joel T Dudley, Jake K Byrnes, Omar E Cornejo, Joshua W Knowles, Mark Woon, Katrin Sangkuhl, Li Gong, Caroline F Thorn, Joan M Hebert, Emidio Capriotti, Sean P David, Aleksandra Pavlovic, Anne West, Joseph V Thakuria, Madeleine P Ball, Alexander W Zaranek, Heidi L Rehm, George M Church, John S West, Carlos D Bustamante, Michael Snyder, Russ B Altman, Teri E Klein, Atul J Butte, Euan A Ashley

    Diterbitkan 2011-09-01
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  18. 18
    Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

    Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population. oleh Manuel A Rivas, Brandon E Avila, Jukka Koskela, Hailiang Huang, Christine Stevens, Matti Pirinen, Talin Haritunians, Benjamin M Neale, Mitja Kurki, Andrea Ganna, Daniel Graham, Benjamin Glaser, Inga Peter, Gil Atzmon, Nir Barzilai, Adam P Levine, Elena Schiff, Nikolas Pontikos, Ben Weisburd, Monkol Lek, Konrad J Karczewski, Jonathan Bloom, Eric V Minikel, Britt-Sabina Petersen, Laurent Beaugerie, Philippe Seksik, Jacques Cosnes, Stefan Schreiber, Bernd Bokemeyer, Johannes Bethge, International IBD Genetics Consortium, NIDDK IBD Genetics Consortium, T2D-GENES Consortium, Graham Heap, Tariq Ahmad, Vincent Plagnol, Anthony W Segal, Stephan Targan, Dan Turner, Paivi Saavalainen, Martti Farkkila, Kimmo Kontula, Aarno Palotie, Steven R Brant, Richard H Duerr, Mark S Silverberg, John D Rioux, Rinse K Weersma, Andre Franke, Luke Jostins, Carl A Anderson, Jeffrey C Barrett, Daniel G MacArthur, Chaim Jalas, Harry Sokol, Ramnik J Xavier, Ann Pulver, Judy H Cho, Dermot P B McGovern, Mark J Daly

    Diterbitkan 2018-05-01
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  19. 19
    Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

    Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population. oleh Manuel A Rivas, Brandon E Avila, Jukka Koskela, Hailiang Huang, Christine Stevens, Matti Pirinen, Talin Haritunians, Benjamin M Neale, Mitja Kurki, Andrea Ganna, Daniel Graham, Benjamin Glaser, Inga Peter, Gil Atzmon, Nir Barzilai, Adam P Levine, Elena Schiff, Nikolas Pontikos, Ben Weisburd, Monkol Lek, Konrad J Karczewski, Jonathan Bloom, Eric V Minikel, Britt-Sabina Petersen, Laurent Beaugerie, Philippe Seksik, Jacques Cosnes, Stefan Schreiber, Bernd Bokemeyer, Johannes Bethge, International IBD Genetics Consortium, NIDDK IBD Genetics Consortium, T2D-GENES Consortium, Graham Heap, Tariq Ahmad, Vincent Plagnol, Anthony W Segal, Stephan Targan, Dan Turner, Paivi Saavalainen, Martti Farkkila, Kimmo Kontula, Aarno Palotie, Steven R Brant, Richard H Duerr, Mark S Silverberg, John D Rioux, Rinse K Weersma, Andre Franke, Luke Jostins, Carl A Anderson, Jeffrey C Barrett, Daniel G MacArthur, Chaim Jalas, Harry Sokol, Ramnik J Xavier, Ann Pulver, Judy H Cho, Dermot P B McGovern, Mark J Daly

    Diterbitkan 2019-05-01
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  20. 20
    Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.

    Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative. oleh Guillaume Butler-Laporte, Gundula Povysil, Jack A Kosmicki, Elizabeth T Cirulli, Theodore Drivas, Simone Furini, Chadi Saad, Axel Schmidt, Pawel Olszewski, Urszula Korotko, Mathieu Quinodoz, Elifnaz Çelik, Kousik Kundu, Klaudia Walter, Junghyun Jung, Amy D Stockwell, Laura G Sloofman, Daniel M Jordan, Ryan C Thompson, Diane Del Valle, Nicole Simons, Esther Cheng, Robert Sebra, Eric E Schadt, Seunghee Kim-Schulze, Sacha Gnjatic, Miriam Merad, Joseph D Buxbaum, Noam D Beckmann, Alexander W Charney, Bartlomiej Przychodzen, Timothy Chang, Tess D Pottinger, Ning Shang, Fabian Brand, Francesca Fava, Francesca Mari, Karolina Chwialkowska, Magdalena Niemira, Szymon Pula, J Kenneth Baillie, Alex Stuckey, Antonio Salas, Xabier Bello, Jacobo Pardo-Seco, Alberto Gómez-Carballa, Irene Rivero-Calle, Federico Martinón-Torres, Andrea Ganna, Konrad J Karczewski, Kumar Veerapen, Mathieu Bourgey, Guillaume Bourque, Robert Jm Eveleigh, Vincenzo Forgetta, David Morrison, David Langlais, Mark Lathrop, Vincent Mooser, Tomoko Nakanishi, Robert Frithiof, Michael Hultström, Miklos Lipcsey, Yanara Marincevic-Zuniga, Jessica Nordlund, Kelly M Schiabor Barrett, William Lee, Alexandre Bolze, Simon White, Stephen Riffle, Francisco Tanudjaja, Efren Sandoval, Iva Neveux, Shaun Dabe, Nicolas Casadei, Susanne Motameny, Manal Alaamery, Salam Massadeh, Nora Aljawini, Mansour S Almutairi, Yaseen M Arabi, Saleh A Alqahtani, Fawz S Al Harthi, Amal Almutairi, Fatima Alqubaishi, Sarah Alotaibi, Albandari Binowayn, Ebtehal A Alsolm, Hadeel El Bardisy, Mohammad Fawzy, Fang Cai, Nicole Soranzo, Adam Butterworth, COVID-19 Host Genetics Initiative, DeCOI Host Genetics Group, GEN-COVID Multicenter Study (Italy), Mount Sinai Clinical Intelligence Center, GEN-COVID consortium (Spain), GenOMICC Consortium, Japan COVID-19 Task Force, Regeneron Genetics Center, Daniel H Geschwind, Stephanie Arteaga, Alexis Stephens, Manish J Butte, Paul C Boutros, Takafumi N Yamaguchi, Shu Tao, Stefan Eng, Timothy Sanders, Paul J Tung, Michael E Broudy, Yu Pan, Alfredo Gonzalez, Nikhil Chavan, Ruth Johnson, Bogdan Pasaniuc, Brian Yaspan, Sandra Smieszek, Carlo Rivolta, Stephanie Bibert, Pierre-Yves Bochud, Maciej Dabrowski, Pawel Zawadzki, Mateusz Sypniewski, Elżbieta Kaja, Pajaree Chariyavilaskul, Voraphoj Nilaratanakul, Nattiya Hirankarn, Vorasuk Shotelersuk, Monnat Pongpanich, Chureerat Phokaew, Wanna Chetruengchai, Katsushi Tokunaga, Masaya Sugiyama, Yosuke Kawai, Takanori Hasegawa, Tatsuhiko Naito, Ho Namkoong, Ryuya Edahiro, Akinori Kimura, Seishi Ogawa, Takanori Kanai, Koichi Fukunaga, Yukinori Okada, Seiya Imoto, Satoru Miyano, Serghei Mangul, Malak S Abedalthagafi, Hugo Zeberg, Joseph J Grzymski, Nicole L Washington, Stephan Ossowski, Kerstin U Ludwig, Eva C Schulte, Olaf Riess, Marcin Moniuszko, Miroslaw Kwasniewski, Hamdi Mbarek, Said I Ismail, Anurag Verma, David B Goldstein, Krzysztof Kiryluk, Alessandra Renieri, Manuel A R Ferreira, J Brent Richards

    Diterbitkan 2022-11-01
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