Ngā hua rapu kaituhi :: APM

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

I whakaputaina 2017

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Artigo

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2

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

I whakaputaina 2022

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3

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

I whakaputaina 2022

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Artigo

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4

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

I whakaputaina 2009

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Revisão

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5

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

I whakaputaina 2024

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6

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

I whakaputaina 2020

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Artigo

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7

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

I whakaputaina 2012

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Artigo

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8

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

I whakaputaina 2021

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Artigo

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9

Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom mā 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

I whakaputaina 2017

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Artigo

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10

MitoHiFi: a python pipeline for mitochondrial genome assembly from PacBio High Fidelity reads mā 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

I whakaputaina 2022

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11

Modelling schizophrenia using human induced pluripotent stem cells mā 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

I whakaputaina 2011

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Artigo

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12

Reference-based phasing using the Haplotype Reference Consortium panel mā 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

I whakaputaina 2016

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Artigo

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13

Reference-based phasing using the Haplotype Reference Consortium panel mā 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

I whakaputaina 2016

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14

A Genetic Basis of Susceptibility to Acute Pyelonephritis mā 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

I whakaputaina 2007

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Artigo

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15

Deep Roots for Aboriginal Australian Y Chromosomes mā 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

I whakaputaina 2016

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Artigo

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16

Genomic evidence reveals three W-autosome fusions in Heliconius butterflies mā 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

I whakaputaina 2024

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Artigo

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17

Reduced transcript expression of genes affected by inherited and de novo CNVs in autism mā 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

I whakaputaina 2011

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Artigo

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18

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

I whakaputaina 2010

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Artigo

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19

Characterization of molecular and cellular phenotypes associated with a heterozygous CNTNAP2 deletion using patient-derived hiPSC neural cells mā 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

I whakaputaina 2015

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Artigo

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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 mā 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

I whakaputaina 2022

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