Søgeresultater - Petr Danecek

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  1. 1
    BCFtools/csq: haplotype-aware variant consequences

    BCFtools/csq: haplotype-aware variant consequences af Petr Danecek, Shane McCarthy

    Udgivet 2017
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  2. 2
    BCFtools/RoH: a hidden Markov model approach for detecting autozygosity from next-generation sequencing data

    BCFtools/RoH: a hidden Markov model approach for detecting autozygosity from next-generation sequencing data af Vagheesh M. Narasimhan, Petr Danecek, Aylwyn Scally, Yali Xue, Chris Tyler‐Smith, Richard Durbin

    Udgivet 2016
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  3. 3
    HTSlib: C library for reading/writing high-throughput sequencing data

    HTSlib: C library for reading/writing high-throughput sequencing data af James Bonfield, John Marshall, Petr Danecek, Heng Li, Valeriu Ohan, Andrew Whitwham, Thomas Keane, Robert M. Davies

    Udgivet 2021
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  4. 4
    Twelve years of SAMtools and BCFtools

    Twelve years of SAMtools and BCFtools af Petr Danecek, James Bonfield, Jennifer Liddle, John Marshall, Valeriu Ohan, Martin Pollard, Andrew Whitwham, Thomas Keane, Shane McCarthy, Robert M. Davies, Heng Li

    Udgivet 2021
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  5. 5
    High levels of RNA-editing site conservation amongst 15 laboratory mouse strains

    High levels of RNA-editing site conservation amongst 15 laboratory mouse strains af Petr Danecek, Christoffer Nellåker, Rebecca E. McIntyre, Jorge E. Buendia-Buendia, Suzannah Bumpstead, Chris P. Ponting, Jonathan Flint, Richard Durbin, Thomas Keane, David J. Adams

    Udgivet 2012
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  6. 6
    The variant call format and VCFtools

    The variant call format and VCFtools af Petr Danecek, Adam Auton, Gonçalo R. Abecasis, Cornelis A. Albers, Eric Banks, Mark A. DePristo, Robert E. Handsaker, Gerton Lunter, Gábor Marth, Stephen T. Sherry, Gil McVean, Richard Durbin

    Udgivet 2011
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  7. 7
    Reference-based phasing using the Haplotype Reference Consortium panel

    Reference-based phasing using the Haplotype Reference Consortium panel af Po‐Ru Loh, Petr Danecek, Pier Francesco Palamara, Christian Fuchsberger, Yakir Reshef, Hilary K. Finucane, Sebastian Schoenherr, Lukas Forer, Shane McCarthy, Gonçalo R. Abecasis, Richard Durbin, Alkes L. Price

    Udgivet 2016
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  8. 8
    Reference-based phasing using the Haplotype Reference Consortium panel

    Reference-based phasing using the Haplotype Reference Consortium panel af Po‐Ru Loh, Petr Danecek, Pier Francesco Palamara, Christian Fuchsberger, Yakir Reshef, Hilary K. Finucane, Sebastian Schoenherr, Lukas Forer, Shane McCarthy, Gonçalo R. Abecasis, Richard Durbin, Alkes L. Price

    Udgivet 2016
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  9. 9
    Substantial somatic genomic variation and selection for BCOR mutations in human induced pluripotent stem cells

    Substantial somatic genomic variation and selection for BCOR mutations in human induced pluripotent stem cells af Foad J. Rouhani, Xueqing Zou, Petr Danecek, Cherif Badja, Tauanne Dias Amarante, Gene Ching Chiek Koh, Qianxin Wu, Yasin Memari, Richard Durbin, Iñigo Martincorena, Andrew Bassett, Daniel J. Gaffney, Serena Nik‐Zainal

    Udgivet 2022
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  10. 10
    Very low-depth whole-genome sequencing in complex trait association studies

    Very low-depth whole-genome sequencing in complex trait association studies af Arthur Gilly, Lorraine Southam, Dániel Süveges, Karoline Kuchenbaecker, Rachel Moore, Giorgio Melloni, Konstantinos Hatzikotoulas, Aliki‐Eleni Farmaki, Graham R. S. Ritchie, Jeremy Schwartzentruber, Petr Danecek, Britt Kilian, Martin Pollard, Xiangyu Ge, Emmanouil Tsafantakis, George Dedoussis, Eleftheria Zeggini

    Udgivet 2018
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  11. 11
    Tracing the Route of Modern Humans out of Africa by Using 225 Human Genome Sequences from Ethiopians and Egyptians

    Tracing the Route of Modern Humans out of Africa by Using 225 Human Genome Sequences from Ethiopians and Egyptians af Luca Pagani, Stephan Schiffels, Deepti Gurdasani, Petr Danecek, Aylwyn Scally, Yuan Chen, Yali Xue, Marc Haber, Rosemary Ekong, Tamiru Oljira, Ephrem Mekonnen, Donata Luiselli, Neil Bradman, Endashaw Bekele, Pierre Zalloua, Richard Durbin, Toomas Kivisild, Chris Tyler‐Smith

    Udgivet 2015
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  12. 12
    Continuity and Admixture in the Last Five Millennia of Levantine History from Ancient Canaanite and Present-Day Lebanese Genome Sequences

    Continuity and Admixture in the Last Five Millennia of Levantine History from Ancient Canaanite and Present-Day Lebanese Genome Sequences af Marc Haber, Claude Doumet‐Serhal, Christiana L. Scheib, Yali Xue, Petr Danecek, Massimo Mezzavilla, Sonia Youhanna, Rui Martiniano, Javier Prado-Martinez, Michał Szpak, Elizabeth Matisoo‐Smith, Holger Schutkowski, Richard Mikulski, Pierre Zalloua, Toomas Kivisild, Chris Tyler‐Smith

    Udgivet 2017
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  13. 13
    Contribution of retrotransposition to developmental disorders

    Contribution of retrotransposition to developmental disorders af Eugene J. Gardner, Elena Prigmore, Giuseppe Gallone, Petr Danecek, Kaitlin E. Samocha, Juliet Handsaker, Sebastian S. Gerety, Holly Ironfield, Patrick Short, Alejandro Sifrim, Tarjinder Singh, Kate Chandler, Emma Clement, Katherine Lachlan, Katrina Prescott, Elisabeth Rosser, David Fitzpatrick, Helen V. Firth, Matthew E. Hurles

    Udgivet 2019
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  14. 14
    Insights into human genetic variation and population history from 929 diverse genomes

    Insights into human genetic variation and population history from 929 diverse genomes af Anders Bergström, Shane McCarthy, Ruoyun Hui, Mohamed A. Almarri, Qasim Ayub, Petr Danecek, Yuan Chen, Sabine Felkel, Pille Hallast, Jack Kamm, Hélène Blanché, Jean‐François Deleuze, Howard M. Cann, Swapan Mallick, David Reich, Manjinder S. Sandhu, Pontus Skoglund, Aylwyn Scally, Yali Xue, Richard Durbin, Chris Tyler‐Smith

    Udgivet 2019
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  15. 15
    Insights into human genetic variation and population history from 929 diverse genomes

    Insights into human genetic variation and population history from 929 diverse genomes af Anders Bergström, Shane McCarthy, Ruoyun Hui, Mohamed A. Almarri, Qasim Ayub, Petr Danecek, Yuan Chen, Sabine Felkel, Pille Hallast, Jack Kamm, Hélène Blanché, Jean‐François Deleuze, Howard M. Cann, Swapan Mallick, David Reich, Manjinder S. Sandhu, Pontus Skoglund, Aylwyn Scally, Yali Xue, Richard Durbin, Chris Tyler‐Smith

    Udgivet 2020
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  16. 16
    Genetic and chemotherapeutic influences on germline hypermutation

    Genetic and chemotherapeutic influences on germline hypermutation af Joanna Kaplanis, Benjamin Ide, Rashesh Sanghvi, Matthew D. C. Neville, Petr Danecek, Tim H. H. Coorens, Elena Prigmore, Patrick Short, Giuseppe Gallone, Jeremy F. McRae, Loukas Moutsianas, Chris A. Odhams, Jenny Carmichael, Angela Barnicoat, Helen V. Firth, Patrick O’Brien, Raheleh Rahbari, Matthew E. Hurles

    Udgivet 2022
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  17. 17
    Examining the role of common variants in rare neurodevelopmental conditions

    Examining the role of common variants in rare neurodevelopmental conditions af Qin Qin Huang, Emilie M. Wigdor, Daniel Malawsky, Patrick Campbell, Kaitlin E. Samocha, V. Kartik Chundru, Petr Danecek, Sarah Lindsay, Tom Marchant, Mahmoud Koko, Sana Amanat, Davide Bonfanti, Eamonn Sheridan, Elizabeth J. Radford, Jeffrey C. Barrett, Caroline F. Wright, Helen V. Firth, Varun Warrier, Alexander I. Young, Matthew E. Hurles, Hilary C. Martin

    Udgivet 2024
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  18. 18
    Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland

    Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland af Caroline F. Wright, Patrick Campbell, Ruth Y. Eberhardt, Stuart Aitken, Daniel Perrett, Simon Brent, Petr Danecek, Eugene J. Gardner, V. Kartik Chundru, Sarah Lindsay, Katrina Andrews, Juliet E. Hampstead, Joanna Kaplanis, Kaitlin E. Samocha, Anna Middleton, Julia Foreman, Rachel J. Hobson, Michael Parker, Hilary C. Martin, David Fitzpatrick, Matthew E. Hurles, Helen V. Firth

    Udgivet 2023
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  19. 19
    The UK10K project identifies rare variants in health and disease

    The UK10K project identifies rare variants in health and disease af Klaudia Walter, Josine L. Min, Jie Huang, Lucy Crooks, Yasin Memari, Shane McCarthy, John R. B. Perry, Changjiang Xu, Marta Futema, Daniel Lawson, Valentina Iotchkova, Stephan Schiffels, Audrey E. Hendricks, Petr Danecek, Rui Li, James S. Floyd, Louise V. Wain, Inês Barroso, Steve E. Humphries, Matthew E. Hurles, Eleftheria Zeggini, Jeffrey C. Barrett, Vincent Plagnol, J. Brent Richards, Celia M. T. Greenwood, Nicholas J. Timpson, Richard Durbin, Nicole Soranzo, Senduran Bala, Peter Clapham, Guy Coates, Tony Cox, Allan Daly, Petr Danecek, Yuanping Du, Richard Durbin, Sarah Edkins, Peter Ellis, Paul Flicek, Xiaosen Guo, Xueqin Guo, Jie Huang, David K. Jackson, Christopher Joyce, Thomas Keane, Anja Kolb-Kokocinski, Cordelia Langford, Rui Li, Jieqin Liang, Hong Lin, Ryan Liu, John Maslen, Shane McCarthy, Dawn Muddyman, Michael A. Quail, Jim Stalker, Jianping Sun, Jing Tian, Guangbiao Wang, Jun Wang, Yu Wang, Kim Wong, Pingbo Zhang, Inês Barroso, Ewan Birney, Chris Boustred, Lu Chen, Gail Clement, Massimiliano Cocca, Petr Danecek, George Davey Smith, Ian N.M. Day, Aaron Day-Williams, Thomas A. Down, Ian Dunham, Richard Durbin, David M. Evans, Tom R. Gaunt, Matthias Geihs, Celia M. T. Greenwood, Deborah Hart, Audrey E. Hendricks, Bryan Howie, Jie Huang, Tim Hubbard, Pirro G. Hysi, Valentina Iotchkova, Yalda Jamshidi, Konrad J. Karczewski, John P. Kemp, Geneviève Lachance, Daniel Lawson, Monkol Lek, Margarida Lopes, Daniel G. MacArthur, Jonathan Marchini, Massimo Mangino, Iain Mathieson, Shane McCarthy, Yasin Memari

    Udgivet 2015
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  20. 20
    Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders

    Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders af Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel, Zhancheng Zhang, Kevin J. Arvai, Ruth Y. Eberhardt, Giuseppe Gallone, Stefan H. Lelieveld, Hilary C. Martin, Jeremy F. McRae, Patrick Short, Rebecca I. Torene, Elke de Boer, Petr Danecek, Eugene J. Gardner, Ni Huang, Jenny Lord, Iñigo Martincorena, Rolph Pfundt, Margot R.F. Reijnders, Alison Yeung, Helger G. Yntema, DDD Study, Lisenka E.L.M. Vissers, Jane Juusola, Caroline F. Wright, Han G. Brunner, Helen V. Firth, David Fitzpatrick, Jeffrey C. Barrett, Matthew E. Hurles, Christian Gilissen, Kyle Retterer

    Udgivet 2019
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