Risultati della ricerca - Shane McCarthy

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

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

    Pubblicazione 2017
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  2. 2
    YaHS: yet another Hi-C scaffolding tool

    YaHS: yet another Hi-C scaffolding tool di Chenxi Zhou, Shane McCarthy, Richard Durbin

    Pubblicazione 2022
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  3. 3
    YaHS: yet another Hi-C scaffolding tool

    YaHS: yet another Hi-C scaffolding tool di Chenxi Zhou, Shane McCarthy, Richard Durbin

    Pubblicazione 2022
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  4. 4
    Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders

    Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders di Jonathan Sebat, Deborah L. Levy, Shane McCarthy

    Pubblicazione 2009
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  5. 5
    Oatk: a de novo assembly tool for complex plant organelle genomes

    Oatk: a de novo assembly tool for complex plant organelle genomes di Chenxi Zhou, Max R. Brown, Mark Blaxter, Shane McCarthy, Richard Durbin

    Pubblicazione 2024
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  6. 6
    Identifying and removing haplotypic duplication in primary genome assemblies

    Identifying and removing haplotypic duplication in primary genome assemblies di Dengfeng Guan, Shane McCarthy, Jonathan Wood, Kerstin Howe, Yadong Wang, Richard Durbin

    Pubblicazione 2020
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  7. 7
    A calibrated human Y-chromosomal phylogeny based on resequencing

    A calibrated human Y-chromosomal phylogeny based on resequencing di Wei Wei, Qasim Ayub, Yuan Chen, Shane McCarthy, Yiping Hou, Ignazio Carbone, Yali Xue, Chris Tyler‐Smith

    Pubblicazione 2012
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  8. 8
    Twelve years of SAMtools and BCFtools

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

    Pubblicazione 2021
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  9. 9
    Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom

    Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom di Himanshu Chheda, Priit Palta, Matti Pirinen, Shane McCarthy, Klaudia Walter, Seppo Koskinen, Veikko Salomaa, Mark J. Daly, Richard Durbin, Aarno Palotie, Tero Aittokallio, Samuli Ripatti

    Pubblicazione 2017
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  10. 10
    MitoHiFi: a python pipeline for mitochondrial genome assembly from PacBio High Fidelity reads

    MitoHiFi: a python pipeline for mitochondrial genome assembly from PacBio High Fidelity reads di Marcela Uliano‐Silva, João Gabriel R. N. Ferreira, Ksenia Krasheninnikova, Giulio Formenti, Linelle Abueg, James Torrance, Eugene W. Myers, Richard Durbin, Mark Blaxter, Shane McCarthy

    Pubblicazione 2022
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  11. 11
    Modelling schizophrenia using human induced pluripotent stem cells

    Modelling schizophrenia using human induced pluripotent stem cells di Kristen Brennand, Anthony Simone, Jessica Jou, Chelsea Gelboin-Burkhart, Ngoc Tran, Sarah Sangar, Yan Li, Yangling Mu, Gong Chen, Diana Yu, Shane McCarthy, Jonathan Sebat, Fred H. Gage

    Pubblicazione 2011
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  12. 12
    Reference-based phasing using the Haplotype Reference Consortium panel

    Reference-based phasing using the Haplotype Reference Consortium panel di 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

    Pubblicazione 2016
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  13. 13
    Reference-based phasing using the Haplotype Reference Consortium panel

    Reference-based phasing using the Haplotype Reference Consortium panel di 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

    Pubblicazione 2016
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  14. 14
    A Genetic Basis of Susceptibility to Acute Pyelonephritis

    A Genetic Basis of Susceptibility to Acute Pyelonephritis di Ann-Charlotte Lundstedt, Shane McCarthy, Mattias C. U. Gustafsson, Gabriela Godaly, Ulf Jodal, Diana Karpman, Irene Leijonhufvud, C. Gerard van der Linden, Jeanette Martinell, Bryndís Ragnarsdóttir, Martin Samuelsson, Lennart Truedsson, Björn Andersson, Catharina Svanborg

    Pubblicazione 2007
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  15. 15
    Deep Roots for Aboriginal Australian Y Chromosomes

    Deep Roots for Aboriginal Australian Y Chromosomes di Anders Bergström, Nano Nagle, Yuan Chen, Shane McCarthy, Martin Pollard, Qasim Ayub, Stephen Wilcox, Leah Wilcox, Roland A.H. van Oorschot, Peter McAllister, Lesley Williams, Yali Xue, R. John Mitchell, Chris Tyler‐Smith

    Pubblicazione 2016
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  16. 16
    Genomic evidence reveals three W-autosome fusions in Heliconius butterflies

    Genomic evidence reveals three W-autosome fusions in Heliconius butterflies di Nicol Rueda‐M, Carolina Pardo‐Díaz, Gabriela Montejo‐Kovacevich, W. Owen McMillan, Krzysztof M. Kozak, Carlos F. Arias, Jonathan Stuart Ready, Shane McCarthy, Richard Durbin, Chris D. Jiggins, Joana I. Meier, Camilo Salazar

    Pubblicazione 2024
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  17. 17
    Reduced transcript expression of genes affected by inherited and de novo CNVs in autism

    Reduced transcript expression of genes affected by inherited and de novo CNVs in autism di Alex S. Nord, Wendy Roeb, Diane E. Dickel, Tom Walsh, Mary Kusenda, Kristen Lewis O’Connor, Dheeraj Malhotra, Shane McCarthy, Sunday M. Stray, Susan Taylor, Jonathan Sebat, Bryan H. King, Mary‐Claire King, Jon McClellan

    Pubblicazione 2011
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  18. 18
    Genomic Duplication and Overexpression of TJP2/ZO-2 Leads to Altered Expression of Apoptosis Genes in Progressive Nonsyndromic Hearing Loss DFNA51

    Genomic Duplication and Overexpression of TJP2/ZO-2 Leads to Altered Expression of Apoptosis Genes in Progressive Nonsyndromic Hearing Loss DFNA51 di Tom Walsh, Sarah B. Pierce, Danielle R. Lenz, Zippora Brownstein, Orit Dagan‐Rosenfeld, Hashem Shahin, Wendy Roeb, Shane McCarthy, Alex S. Nord, Carlos R. Gordon, Ziva Ben‐Neriah, Jonathan Sebat, Moien Kanaan, Ming K. Lee, Moshe Frydman, Mary‐Claire King, Karen B. Avraham

    Pubblicazione 2010
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  19. 19
    Characterization of molecular and cellular phenotypes associated with a heterozygous CNTNAP2 deletion using patient-derived hiPSC neural cells

    Characterization of molecular and cellular phenotypes associated with a heterozygous CNTNAP2 deletion using patient-derived hiPSC neural cells di Inkyu S Lee, Claudia M.B. Carvalho, Panagiotis Douvaras, Seok‐Man Ho, Brigham J. Hartley, Luciana W. Zuccherato, Ian Ladran, Arthur J. Siegel, Shane McCarthy, Dheeraj Malhotra, Jonathan Sebat, Judith L. Rapoport, Valentina Fossati, James R. Lupski, Deborah L. Levy, Kristen Brennand

    Pubblicazione 2015
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  20. 20
    Use of whole genome sequencing to estimate the contribution of immune evasion and waning immunity to decreasing COVID-19 vaccine effectiveness during alpha and delta variant waves

    Use of whole genome sequencing to estimate the contribution of immune evasion and waning immunity to decreasing COVID-19 vaccine effectiveness during alpha and delta variant waves di Margaret L. Lind, Richard Copin, Shane McCarthy, Andreas Coppi, Fred Warner, David Ferguson, Chelsea Duckwall, Ryan Borg, M. Catherine Muenker, John D. Overton, Sara Hamon, Anbo Zhou, Derek A. T. Cummings, Albert I. Ko, Jennifer D. Hamilton, Wade L. Schulz, Matt T. Hitchings

    Pubblicazione 2022
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