The Sequence Alignment/Map format and SAMtools

Li, Heng, Handsaker, Bob, Wysoker, Alec, Fennell, Tim, Ruan, Jue, Homer, Nils, Marth, Gabor, Abecasis, Goncalo +2 more·2009·Bioinformatics

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Items 801–900 of 1,715

  1. Impairment of immunity to <i>Candida</i> and <i>Mycobacterium</i> in humans with bi-allelic <i>RORC</i> mutations
    Okada, Satoshi, Markle, Janet G., Deenick, Elissa K., Mele, Federico, Averbuch, Dina, Lagos, Macarena, Alzahrani, Mohammed, Al-Muhsen, Saleh, Halwani, Rabih, Ma, Cindy S. et al. · 2015 · Science
  2. Expansion sequencing: Spatially precise in situ transcriptomics in intact biological systems
    Shahar Alon, Daniel Goodwin, Anubhav Sinha, Asmamaw T. Wassie, Fei Chen, Evan R Daugharthy, Yosuke Bando, Atsushi Kajita, Andrew G. Xue, Karl Marrett et al. · 2021 · Science
  3. HTSlib: C library for reading/writing high-throughput sequencing data
    2021
  4. Peripherally derived macrophages can engraft the brain independent of irradiation and maintain an identity distinct from microglia
    Cronk, James C., Filiano, Anthony J., Louveau, Antoine, Marin, Ioana, Marsh, Rachel, Ji, Emily, Goldman, Dylan H., Smirnov, Igor, Geraci, Nicholas, Acton, Scott et al. · 2018 · Journal of Experimental Medicine
  5. Population genomics reveal recent speciation and rapid evolutionary adaptation in polar bears
    Liu, Shiping, Lorenzen, Eline D., Fumagalli, Matteo, Li, Bo, Harris, Kelley, Xiong, Zijun, Zhou, Long, Korneliussen, Thorfinn Sand, Somel, Mehmet, Babbitt, Courtney et al. · 2014 · Cell
  6. Stick Insect Genomes Reveal Natural Selection’s Role in Parallel Speciation
    Víctor Soria‐Carrasco, Zachariah Gompert, Aaron A. Comeault, Timothy E. Farkas, Thomas Lee Parchman, J. Spencer Johnston, C. Alex Buerkle, Jeffrey L. Feder, Jens Bast, Tanja Schwander et al. · 2014 · Science
  7. Multiclonal Invasion in Breast Tumors Identified by Topographic Single Cell Sequencing
    Casasent, Anna K., Schalck, Aislyn, Gao, Ruli, Sei, Emi, Long, Annalyssa, Pangburn, William, Casasent, Tod, Meric-Bernstam, Funda, Edgerton, Mary E., Navin, Nicholas E. · 2018 · Cell
  8. Neutralizing Antibody and Soluble ACE2 Inhibition of a Replication-Competent VSV-SARS-CoV-2 and a Clinical Isolate of SARS-CoV-2
    Case, James Brett, Rothlauf, Paul W., Chen, Rita E., Liu, Zhuoming, Zhao, Haiyan, Kim, Arthur S., Bloyet, Louis-Marie, Zeng, Qiru, Tahan, Stephen, Droit, Lindsay et al. · 2020 · Cell Host &amp; Microbe
  9. N-Myc Drives Neuroendocrine Prostate Cancer Initiated from Human Prostate Epithelial Cells
    John K. Lee, John W. Phillips, Bryan A. Smith, Jung Wook Park, Tanya Ivanova Stoyanova, Erin McCaffrey, Robert Baertsch, Artem Sokolov, Justin Meyerowitz, Colleen Mathis et al. · 2016 · Cancer Cell
  10. Secondary Somatic Mutations Restoring RAD51C and RAD51D Associated with Acquired Resistance to the PARP Inhibitor Rucaparib in High-Grade Ovarian Carcinoma
    Olga Kondrashova, Minh Nguyen, Kristy Shield‐Artin, Anna V. Tinker, Nelson N.H. Teng, Maria I. Harrell, Michael J. Kuiper, Gwo‐Yaw Ho, Holly E. Barker, Maria Jasin et al. · 2017 · Cancer Discovery
  11. Lep-MAP3: robust linkage mapping even for low-coverage whole genome sequencing data
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  12. Reconstructing Prehistoric African Population Structure
    Pontus Skoglund, Jessica C. Thompson, Mary E. Prendergast, Alissa Mittnik, Kendra A. Sirak, Mateja Hajdinjak, Tasneem Salie, Nadin Rohland, Swapan Mallick, Alexander Peltzer et al. · 2017 · Cell
  13. Identification of a novel salt tolerance gene in wild soybean by whole-genome sequencing
    Xinpeng Qi, Man‐Wah Li, Min Xie, Xin Liu, Meng Ni, Guihua Shao, Chi Song, Aldrin Kay‐Yuen Yim, Ye Tao, Fuk‐Ling Wong et al. · 2014 · Nature Communications
  14. Genome graphs and the evolution of genome inference
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  15. The rise and fall of the Phytophthora infestans lineage that triggered the Irish potato famine
    Kentaro Yoshida, Verena J. Schuenemann, Liliana M. Cano, Marina Pais, Bagdevi Mishra, Rahul Sharma, Chirsta Lanz, Frank N. Martin, Sophien Kamoun, Johannes Krause et al. · 2013 · eLife
  16. De novo genome sequencing and comparative genomics of date palm (Phoenix dactylifera)
    Eman Al‐Dous, Binu George, Maryam E. Al‐Mahmoud, Moneera Y Al-Jaber, Hao Wang, Yasmeen Salameh, Eman K. Al‐Azwani, Srinivasa Rao Chaluvadi, Ana Clara Pontaroli, Jeremy D. DeBarry et al. · 2011 · Nature Biotechnology
  17. Circular DNA elements of chromosomal origin are common in healthy human somatic tissue
    Henrik Devitt Møller, Marghoob Mohiyuddin, Iñigo Prada-Luengo, M. Reza Sailani, Jens Frey Halling, Peter Plomgaard, Lasse Maretty, Anders Johannes Hansen, Michael P. Snyder, Henriette Pilegaard et al. · 2018 · Nature Communications
  18. Dindel: Accurate indel calls from short-read data
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  19. Necroptosis microenvironment directs lineage commitment in liver cancer
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  20. Functional and Genomic Variation between Human-Derived Isolates of Lachnospiraceae Reveals Inter- and Intra-Species Diversity
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  21. A comprehensive benchmarking study of protocols and sequencing platforms for 16S rRNA community profiling
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  22. Identification of context-dependent expression quantitative trait loci in whole blood
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  23. Rabbit genome analysis reveals a polygenic basis for phenotypic change during domestication
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  24. Rapid modelling of cooperating genetic events in cancer through somatic genome editing
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  25. Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas
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  26. The Statistics of Bulk Segregant Analysis Using Next Generation Sequencing
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  27. Prions are a common mechanism for phenotypic inheritance in wild yeasts
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  28. Epitranscriptomic m6A Regulation of Axon Regeneration in the Adult Mammalian Nervous System
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  29. Genomic epidemiology reveals multiple introductions of Zika virus into the United States
    Grubaugh, Nathan D., Ladner, Jason T., Kraemer, Moritz U. G., Dudas, Gytis, Tan, Amanda L., Gangavarapu, Karthik, Wiley, Michael R., White, Stephen, Thézé, Julien, Magnani, Diogo M. et al. · 2017 · Nature
  30. Accurate and complete genomes from metagenomes
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  31. Clinical and virologic characteristics of the first 12 patients with coronavirus disease 2019 (COVID-19) in the United States
    The COVID-19 Investigation Team · 2020 · Nature Medicine
  32. REAPR: a universal tool for genome assembly evaluation
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  33. Microsatellite Instability Detection by Next Generation Sequencing
    Stephen J. Salipante, Sheena M. Scroggins, Heather L. Hampel, Emily H. Turner, Colin C. Pritchard · 2014 · Clinical Chemistry
  34. Perspective on Oncogenic Processes at the End of the Beginning of Cancer Genomics
    Ding, Li, Bailey, Matthew H., Porta-Pardo, Eduard, Thorsson, Vesteinn, Colaprico, Antonio, Bertrand, Denis, Gibbs, David L., Weerasinghe, Amila, Huang, Kuan-lin, Tokheim, Collin et al. · 2018 · Cell
  35. Density of immunogenic antigens does not explain the presence or absence of the T-cell–inflamed tumor microenvironment in melanoma
    Stefani Spranger, Jason J. Luke, Riyue Bao, Yuanyuan Zha, Kyle M. Hernandez, Li Yan, Alexander P. Gajewski, Jorge Andrade, Thomas F. Gajewski · 2016 · Proceedings of the National Academy of Sciences
  36. Batf3 maintains autoactivation of Irf8 for commitment of a CD8α+ conventional DC clonogenic progenitor
    Gary E. Grajales‐Reyes, Arifumi Iwata, Jörn C. Albring, Xiaodi Wu, Roxane Tussiwand, Wumesh KC, Nicole M. Kretzer, Carlos G. Briseño, Vivek Durai, Prachi Bagadia et al. · 2015 · Nature Immunology
  37. Drift-barrier hypothesis and mutation-rate evolution
    Way Sung, Matthew S. Ackerman, Samuel F. Miller, Thomas G. Doak, Michael Lynch · 2012 · Proceedings of the National Academy of Sciences
  38. Track data hubs enable visualization of user-defined genome-wide annotations on the UCSC Genome Browser
    Brian J. Raney, Timothy R. Dreszer, Galt P. Barber, H. Clawson, Pauline A. Fujita, Ting Wang, N. Nguyen, B. Paten, A. Zweig, D. Karolchik et al. · 2013 · Bioinform.
  39. Linked selection and recombination rate variation drive the evolution of the genomic landscape of differentiation across the speciation continuum of Ficedula flycatchers
    Reto Burri, Alexander Nater, Takeshi Kawakami, Carina F. Mugal, Pall I. Olason, Linnéa Smeds, Alexander Suh, Ludovic Dutoit, Stanislav Bureš, László Zsolt Garamszegi et al. · 2015 · Genome Research
  40. Overcoming mutation-based resistance to antiandrogens with rational drug design
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  41. RNA-Seq workflow: gene-level exploratory analysis and differential expression
    Michael I. Love, Simon Anders, Vladislav Kim, Wolfgang K. Huber · 2015 · F1000Research
  42. Telomere-to-telomere assembly of diploid chromosomes with Verkko
    Mikko Rautiainen, Sergey Nurk, Brian P. Walenz, Glennis A. Logsdon, David Porubskỳ, Arang Rhie, Evan E. Eichler, Adam M. Phillippy, Sergey Koren · 2023 · Nature Biotechnology
  43. Single-nucleus analysis of accessible chromatin in developing mouse forebrain reveals cell-type-specific transcriptional regulation
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  44. Intracontinental spread of human invasive Salmonella Typhimurium pathovariants in sub-Saharan Africa
    Chinyere K. Okoro, Robert A. Kingsley, Thomas R. Connor, Simon R. Harris, Christopher Martin Parry, Manar Najim Al‐Mashhadani, Samuel Kariuki, Chisomo Lawrence Msefula, Melita A. Gordon, Elizabeth de Pinna et al. · 2012 · Nature Genetics
  45. Recurrent SETBP1 mutations in atypical chronic myeloid leukemia
    Rocco Piazza, Simona Valletta, Nils Winkelmann, Sara Redaelli, Roberta Spinelli, Alessandra Pirola, Laura Antolini, Luca Mologni, Carla Donadoni, Elli Papaemmanuil et al. · 2012 · Nature Genetics
  46. Whole‐genome sequencing approaches for conservation biology: Advantages, limitations and practical recommendations
    Angela P. Fuentes‐Pardo, Daniel E. Ruzzante · 2017 · Molecular Ecology
  47. Extensive intraspecific gene order and gene structural variations between Mo17 and other maize genomes
    Silong Sun, Yingsi Zhou, Jian Chen, Junpeng Shi, Haiming Zhao, Hainan Zhao, Weibin Song, Mei Zhang, Yang Cui, Xiaomei Dong et al. · 2018 · Nature Genetics
  48. Genomic basis for RNA alterations in cancer
    PCAWG Transcriptome Core Group, Claudia Calabrese, Natalie R. Davidson, Deniz Demircioğlu, Nuno A. Fonseca, Yao He, André Kahles, Kjong-Van Lehmann, Fenglin Liu, Yuichi Shiraishi et al. · 2020 · Nature
  49. An NK-like CAR T cell transition in CAR T cell dysfunction
    Charly Ryan Good, Maria Angela Aznar, Shunichiro Kuramitsu, Parisa Samareh, Sangya Agarwal, Greg Donahue, Kenichi Ishiyama, Nils Wellhausen, Austin K. Rennels, Yujie Ma et al. · 2021 · Cell
  50. Restriction site‐associated DNA sequencing, genotyping error estimation and de novo assembly optimization for population genetic inference
    Alicia Mastretta‐Yanes, Nils Arrigo, Nadir Álvarez, Tove Hedegaard Jorgensen, Daniel Piñero, Brent C. Emerson · 2014 · Molecular Ecology Resources
  51. Early life stress confers lifelong stress susceptibility in mice via ventral tegmental area OTX2
    Peña, Catherine J., Kronman, Hope G., Walker, Deena M., Cates, Hannah M., Bagot, Rosemary C., Purushothaman, Immanuel, Issler, Orna, Loh, Yong-Hwee Eddie, Leong, Tin, Kiraly, Drew D. et al. · 2017 · Science
  52. ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions
    Dolzhenko, Egor, Deshpande, Viraj, Schlesinger, Felix, Krusche, Peter, Petrovski, Roman, Chen, Sai, Emig-Agius, Dorothea, Gross, Andrew, Narzisi, Giuseppe, Bowman, Brett et al. · 2019 · Bioinformatics
  53. Unraveling CRISPR-Cas9 genome engineering parameters via a library-on-library approach
    Raj Chari, Prashant Mali, Mark Moosburner, George McDonald Church · 2015 · Nature Methods
  54. Zika virus evolution and spread in the Americas
    Hayden C. Metsky, Christian B. Matranga, Shirlee Wohl, Stephen F. Schaffner, Catherine A. Freije, Sarah M. Winnicki, Kendra L. West, James Qu, Mary Lynn Baniecki, Adrianne D. Gladden et al. · 2017 · Nature
  55. Stem Cell Pluripotency Genes Klf4 and Oct4 Regulate Complex SMC Phenotypic Changes Critical in Late-Stage Atherosclerotic Lesion Pathogenesis
    Gabriel F. Alencar, Katherine M. Owsiany, Santosh Karnewar, Katyayani Sukhavasi, Giuseppe Mocci, Anh Tram Nguyen, Corey M. Williams, Sohel Shamsuzzaman, Michal Mokrý, Christopher A. Henderson et al. · 2020 · Circulation
  56. Lymph node colonization induces tumor-immune tolerance to promote distant metastasis
    Nathan Edward Reticker-Flynn, Weiruo Zhang, Julia A. Belk, Pamela Antonia Basto, Nichole K. Escalante, Genay O.W. Pilarowski, Alborz Bejnood, Maria M. Martins, Justin A. Kenkel, Ian L. Linde et al. · 2022 · Cell
  57. Damage-induced lncRNAs control the DNA damage response through interaction with DDRNAs at individual double-strand breaks
    Michelini, Flavia, Pitchiaya, Sethuramasundaram, Vitelli, Valerio, Sharma, Sheetal, Gioia, Ubaldo, Pessina, Fabio, Cabrini, Matteo, Wang, Yejun, Capozzo, Ilaria, Iannelli, Fabio et al. · 2017 · Nature Cell Biology
  58. Long-read sequence assembly: a technical evaluation in barley
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  59. POT1 loss-of-function variants predispose to familial melanoma
    Robles-Espinoza, Carla Daniela, Harland, Mark, Ramsay, Andrew J, Aoude, Lauren G, Quesada, Víctor, Ding, Zhihao, Pooley, Karen A, Pritchard, Antonia L, Tiffen, Jessamy C, Petljak, Mia et al. · 2014 · Nature Genetics
  60. Reconstructing the Deep Population History of Central and South America
    Cosimo Posth, Nathan J. Nakatsuka, Iosif Lazaridis, Pontus Skoglund, Swapan Mallick, Thiseas C. Lamnidis, Nadin Rohland, Kathrin Nägele, Nicole Adamski, Emilie Bertolini et al. · 2018 · Cell
  61. Extracellular electron transfer-dependent anaerobic oxidation of ammonium by anammox bacteria
    Dario Rangel Shaw, Muhammad Ali, Krishna P. Katuri, Jeffrey A. Gralnick, Joachim Reimann, Rob Mesman, Laura van Niftrik, Mike S. M. Jetten, Pascal Elias Saikaly · 2020 · Nature Communications
  62. The evolution of a tropical biodiversity hotspot
    Michael G. Harvey, Gustavo A. Bravo, Santiago Claramunt, Andrés M. Cuervo, Graham E. Derryberry, Jaqueline Battilana, Glenn Fairbanks Seeholzer, Jessica McKay, Brian C. O’Meara, Brant C. Faircloth et al. · 2020 · Science
  63. Different Neuronal Activity Patterns Induce Different Gene Expression Programs
    Tyssowski, Kelsey M., DeStefino, Nicholas R., Cho, Jin-Hyung, Dunn, Carissa J., Poston, Robert G., Carty, Crista E., Jones, Richard D., Chang, Sarah M., Romeo, Palmyra, Wurzelmann, Mary K. et al. · 2018 · Neuron
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  65. Brain feminization requires active repression of masculinization via DNA methylation
    Bridget M. Nugent, Christopher L. Wright, Amol Carl Shetty, Georgia E. Hodes, Kathryn M. Lenz, Anup Mahurkar, Scott J. Russo, Scott E. Devine, Margaret M. McCarthy · 2015 · Nature Neuroscience
  66. Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci
    Kyle J. Gaulton, Teresa Cruz Ferreira, Yeji Lee, Anne Raimondo, Reedik Mägi, Michael E. Reschen, Anubha Mahajan, Adam E. Locke, Nigel William Rayner, Neil Robertson et al. · 2015 · Nature Genetics
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    Xiaoyang Lan, David J. Jörg, Florence M.G. Cavalli, Laura M. Richards, Long V. Nguyen, Robert J. Vanner, Paul Guilhamon, Lilian Lee, Michelle M. Kushida, Davide Pellacani et al. · 2017 · Nature
  68. Distinct contributions of partial and full EMT to breast cancer malignancy
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    Teytelman, Leonid, Thurtle, Deborah M., Rine, Jasper, van Oudenaarden, Alexander · 2013 · Proceedings of the National Academy of Sciences
  70. Mutational and structural analysis of diffuse large B-cell lymphoma using whole-genome sequencing
    Ryan D. Morin, Karen Mungall, Erin Pleasance, Andrew J. J. Mungall, Rodrigo Goya, Ryan D. Huff, David W. Scott, Jiarui Ding, Andrew J. L. Roth, Readman Chiu et al. · 2013 · Blood
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    Corina Ohle, Rafael A. Tesorero, Géza Schermann, Nikolay Dobrev, Irmgard Sinning, Tamás Fischer · 2016 · Cell
  72. High-Dimensional Single-Cell Cartography Reveals Novel Skeletal Muscle-Resident Cell Populations
    Lorenzo Giordani, Gary J. He, Elisa Négroni, Hiroshi Sakai, Justin Y. C. Law, M. Mona Siu, Raymond Wan, Aurélien Corneau, Shahragim Tajbakhsh, Tom H. Cheung et al. · 2019 · Molecular Cell
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    Simon J. Elsässer, Kyung‐Min Noh, Nichole S. Diaz, C. David Allis, Laura A. Banaszynski · 2015 · Nature
  74. Osteoblasts remotely supply lung tumors with cancer-promoting SiglecF high neutrophils
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  75. Stepwise selection on homeologous PRR genes controlling flowering and maturity during soybean domestication
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  83. College of American Pathologists' Laboratory Standards for Next-Generation Sequencing Clinical Tests
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  87. Regulation of Co-transcriptional Pre-mRNA Splicing by m6A through the Low-Complexity Protein hnRNPG
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  88. Recurrent mutations in multiple components of the cohesin complex in myeloid neoplasms
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  89. Accurate identification of human Alu and non-Alu RNA editing sites
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  90. The transcription factor BATF operates as an essential differentiation checkpoint in early effector CD8+ T cells
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  92. Clinical and analytical validation of FoundationOne®CDx, a comprehensive genomic profiling assay for solid tumors
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  93. DNA methylation changes in plasticity genes accompany the formation and maintenance of memory
    Halder, Rashi, Hennion, Magali, Vidal, Ramon O, Shomroni, Orr, Rahman, Raza-Ur, Rajput, Ashish, Centeno, Tonatiuh Pena, van Bebber, Frauke, Capece, Vincenzo, Vizcaino, Julio C Garcia et al. · 2016 · Nature Neuroscience
  94. Genome Organization Drives Chromosome Fragility
    Canela, Andres, Maman, Yaakov, Jung, Seolkyoung, Wong, Nancy, Callen, Elsa, Day, Amanda, Kieffer-Kwon, Kyong-Rim, Pekowska, Aleksandra, Zhang, Hongliang, Rao, Suhas S.P. et al. · 2017 · Cell
  95. Chromosome-scale selective sweeps shape Caenorhabditis elegans genomic diversity
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