תוצאות חיפוש - Shane McCarthy
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BCFtools/csq: haplotype-aware variant consequences מאת Petr Danecek, Shane McCarthy
יצא לאור 2017Artigo -
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YaHS: yet another Hi-C scaffolding tool מאת Chenxi Zhou, Shane McCarthy, Richard Durbin
יצא לאור 2022Pré-impressão -
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YaHS: yet another Hi-C scaffolding tool מאת Chenxi Zhou, Shane McCarthy, Richard Durbin
יצא לאור 2022Artigo -
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Oatk: a de novo assembly tool for complex plant organelle genomes מאת Chenxi Zhou, Max R. Brown, Mark Blaxter, Shane McCarthy, Richard Durbin
יצא לאור 2024Pré-impressão -
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Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom מאת 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
יצא לאור 2017Artigo -
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MitoHiFi: a python pipeline for mitochondrial genome assembly from PacBio High Fidelity reads מאת 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
יצא לאור 2022Pré-impressão -
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Reference-based phasing using the Haplotype Reference Consortium panel מאת 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
יצא לאור 2016Artigo -
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Reference-based phasing using the Haplotype Reference Consortium panel מאת 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
יצא לאור 2016Pré-impressão -
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A Genetic Basis of Susceptibility to Acute Pyelonephritis מאת 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
יצא לאור 2007Artigo -
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Deep Roots for Aboriginal Australian Y Chromosomes מאת 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
יצא לאור 2016Artigo -
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Genomic evidence reveals three W-autosome fusions in Heliconius butterflies מאת 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
יצא לאור 2024Artigo -
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Reduced transcript expression of genes affected by inherited and de novo CNVs in autism מאת 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
יצא לאור 2011Artigo -
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Genomic Duplication and Overexpression of TJP2/ZO-2 Leads to Altered Expression of Apoptosis Genes in Progressive Nonsyndromic Hearing Loss DFNA51 מאת 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
יצא לאור 2010Artigo -
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Characterization of molecular and cellular phenotypes associated with a heterozygous CNTNAP2 deletion using patient-derived hiPSC neural cells מאת 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
יצא לאור 2015Artigo -
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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 מאת 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
יצא לאור 2022Pré-impressão
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Genotype
Single-nucleotide polymorphism
Internal medicine
Computer science
Evolutionary biology
1000 Genomes Project
Population
Disease
Gene expression
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Copy-number variation
Demography
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Sociology
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Allele frequency
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