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

Cited by (1,715)

Items 501–600 of 1,715

  1. Viral infection and transmission in a large, well-traced outbreak caused by the SARS-CoV-2 Delta variant
    Baisheng Li, Aiping Deng, Kuibiao Li, Yao Hu, Zhencui Li, Yaling Shi, Qianling Xiong, Zhe Liu, Qianfang Guo, Lirong Zou et al. · 2022 · Nature Communications
  2. Convergent evolution and adaptation of Pseudomonas aeruginosa within patients with cystic fibrosis
    Rasmus L. Marvig, Lea Mette Sommer, Søren Molin, Helle Krogh Johansen · 2014 · Nature Genetics
  3. Optical maps refine the bread wheat Triticum aestivum cv. Chinese Spring genome assembly
    Tingting Zhu, Le Wang, Hélène Rimbert, J. Rodriguez, Karin R. Deal, Romain De Oliveira, Frédéric Choulet, Gabriel Keeble‐Gagnère, Josquin F. G. Tibbits, Jane Rogers et al. · 2021 · The Plant Journal
  4. Assessing the performance of the Oxford Nanopore Technologies MinION
    Thomas William Laver, Jamie Harrison, P.A. O’Neill, Karen Moore, Audrey Farbos, Konrad H. Paszkiewicz, David John Studholme · 2015 · Biomolecular Detection and Quantification
  5. RNA-Mediated Feedback Control of Transcriptional Condensates
    Jonathan E. Henninger, Ozgur Oksuz, Krishna Shrinivas, Ido Sagi, Gary LeRoy, Ming Zheng, J Owen Andrews, Alicia Viridiana Zamudio, Charalampos Lazaris, Nancy M. Hannett et al. · 2020 · Cell
  6. ARID1A deficiency promotes mutability and potentiates therapeutic antitumor immunity unleashed by immune checkpoint blockade
    Shen, Jianfeng, Ju, Zhenlin, Zhao, Wei, Wang, Lulu, Peng, Yang, Ge, Zhongqi, Nagel, Zachary D., Zou, Jun, Wang, Chen, Kapoor, Prabodh et al. · 2018 · Nature Medicine
  7. Resurrecting Surviving Neandertal Lineages from Modern Human Genomes
    Vernot, Benjamin, Akey, Joshua M. · 2014 · Science
  8. Mammalian NET-Seq Reveals Genome-wide Nascent Transcription Coupled to RNA Processing
    Nojima, Takayuki, Gomes, Tomás, Grosso, Ana Rita Fialho, Kimura, Hiroshi, Dye, Michael J., Dhir, Somdutta, Carmo-Fonseca, Maria, Proudfoot, Nicholas J. · 2015 · Cell
  9. Insights into the Maize Pan-Genome and Pan-Transcriptome
    Candice N. Hirsch, Jillian M. Foerster, James M. Johnson, Rajandeep S. Sekhon, German Muttoni, Brieanne Vaillancourt, Francisco Peñagaricano, Erika Lindquist, Mary Ann Pedraza, Kerrie Barry et al. · 2014 · The Plant Cell
  10. Parental influence on human germline de novo mutations in 1,548 trios from Iceland
    Jónsson, Hákon, Sulem, Patrick, Kehr, Birte, Kristmundsdottir, Snaedis, Zink, Florian, Hjartarson, Eirikur, Hardarson, Marteinn T., Hjorleifsson, Kristjan E., Eggertsson, Hannes P., Gudjonsson, Sigurjon Axel et al. · 2017 · Nature
  11. Targeted genome editing in human repopulating haematopoietic stem cells
    Genovese, Pietro, Schiroli, Giulia, Escobar, Giulia, Di Tomaso, Tiziano, Firrito, Claudia, Calabria, Andrea, Moi, Davide, Mazzieri, Roberta, Bonini, Chiara, Holmes, Michael C. et al. · 2014 · Nature
  12. Assembly of 913 microbial genomes from metagenomic sequencing of the cow rumen
    Stewart, Robert D., Auffret, Marc D., Warr, Amanda, Wiser, Andrew H., Press, Maximilian O., Langford, Kyle W., Liachko, Ivan, Snelling, Timothy J., Dewhurst, Richard J., Walker, Alan W. et al. · 2018 · Nature Communications
  13. Longitudinal molecular trajectories of diffuse glioma in adults
    Floris P Barthel, Kevin C. Johnson, Frederick S. Varn, Anzhela D. Moskalik, Georgette Tanner, Emre Kocakavuk, Kevin J. Anderson, Olajide Abiola, Kenneth Aldape, Kristin D. Alfaro-Munoz et al. · 2019 · Nature
  14. Genome-wide CRISPR Screens Reveal Host Factors Critical for SARS-CoV-2 Infection
    Jin Wei, Mia Madel Alfajaro, Peter C. DeWeirdt, Ruth E. Hanna, William J. Lu-Culligan, Wesley L. Cai, Madison S. Strine, Shang-Min Zhang, Vincent R. Graziano, Cameron O. Schmitz et al. · 2020 · Cell
  15. Rapid metagenomic identification of viral pathogens in clinical samples by real-time nanopore sequencing analysis
    Greninger, Alexander L., Naccache, Samia N., Federman, Scot, Yu, Guixia, Mbala, Placide, Bres, Vanessa, Stryke, Doug, Bouquet, Jerome, Somasekar, Sneha, Linnen, Jeffrey M. et al. · 2015 · Genome Medicine
  16. Early Divergent Strains of Yersinia pestis in Eurasia 5,000 Years Ago
    Simon Rasmussen, Morten E. Allentoft, Kasper Rene Nielsen, Ludovic Orlando, Martin Sikora, Karl-Göran Sjögren, Anders Gorm Pedersen, Mikkel Schubert, Alex Van Dam, Christian M. O. Kapel et al. · 2015 · Cell
  17. Pervasive genetic hitchhiking and clonal interference in forty evolving yeast populations
    Gregory I. Lang, Daniel P. Rice, Mark J. Hickman, Erica J Sodergren, George M. Weinstock, David Botstein, Michael M. Desai · 2013 · Nature
  18. Genome-wide association studies dissect the genetic networks underlying agronomical traits in soybean
    Chao Qi Fang, Yanming Ma, Shiwen Wu, Zhi Liu, Zheng Wang, Rui Yang, Guanghui Hu, Zhengkui Zhou, Hong Jun Yu, Min Zhang et al. · 2017 · Genome biology
  19. SpeedSeq: ultra-fast personal genome analysis and interpretation
    Colby Chiang, Ryan M. Layer, Gregory G. Faust, Michael R. Lindberg, David B Rose, Erik P. Garrison, Gábor Marth, Aaron R. Quinlan, Ira M. Hall · 2015 · Nature Methods
  20. Identification of neoantigens for individualized therapeutic cancer vaccines
    Franziska Lang, Barbara Schrörs, Martin Löwer, Özlem Türeci, Uğur Şahin · 2022 · Nature Reviews Drug Discovery
  21. Starvation-Induced Transgenerational Inheritance of Small RNAs in C. elegans
    Rechavi, Oded, Houri-Ze’evi, Leah, Anava, Sarit, Goh, Wee Siong Sho, Kerk, Sze Yen, Hannon, Gregory J., Hobert, Oliver · 2014 · Cell
  22. Genomic analyses identify distinct patterns of selection in domesticated pigs and Tibetan wild boars
    Mingzhou Li, Shilin Tian, Long Guo Jin, Guangyu Zhou, Ying Li, Yuan Zhang, Tao Wang, Carol K. L. Yeung, Lei Chen, Jideng Ma et al. · 2013 · Nature Genetics
  23. Precise Manipulation of Chromosomes in Vivo Enables Genome-Wide Codon Replacement
    Farren J. Isaacs, Peter A. Carr, Harris H. Wang, Marc J. Lajoie, Bram Sterling, Laurens Kraal, Andrew C. Tolonen, Tara A. Gianoulis, Daniel Bryan Goodman, Nikos B. Reppas et al. · 2011 · Science
  24. Circulating Cell-Free DNA Enables Noninvasive Diagnosis of Heart Transplant Rejection
    Iwijn De Vlaminck, Hannah A. Valantine, Thomas M. Snyder, Calvin Strehl, Garrett Cohen, Helen I. Luikart, Norma F Neff, Jennifer Okamoto, Daniel Bernstein, Dana Weisshaar et al. · 2014 · Science Translational Medicine
  25. Spatial maps of prostate cancer transcriptomes reveal an unexplored landscape of heterogeneity
    Emelie Berglund, Jonas Maaskola, Niklas Schultz, Stefanie Friedrich, Maja Marklund, Joseph Bergenstråhle, Firas Tarish, Anna Tanoglidi, Sanja Vicković, Ludvig Larsson et al. · 2018 · Nature Communications
  26. Rapid antibiotic-resistance predictions from genome sequence data for Staphylococcus aureus and Mycobacterium tuberculosis
    Phelim Bradley, Nicola Claire Gordon, Timothy M. Walker, Laura E. M. Dunn, Simon Heys, Bill Huang, Sarah G. Earle, Louise J. Pankhurst, Luke W. Anson, Mariateresa de Cesare et al. · 2015 · Nature Communications
  27. A reference genome for pea provides insight into legume genome evolution
    Jonathan Kreplak, Mohammed‐Amin Madoui, Petr Cápal, Petr Novák, Karine Labadie, Grégoire Aubert, Philipp E. Bayer, Krishna Kishore Gali, Robert Andrew Syme, Dorrie Main et al. · 2019 · Nature Genetics
  28. Single-Neuron Sequencing Analysis of L1 Retrotransposition and Somatic Mutation in the Human Brain
    Evrony, Gilad D., Cai, Xuyu, Lee, Eunjung, Hills, L. Benjamin, Elhosary, Princess C., Lehmann, Hillel S., Parker, J.J., Atabay, Kutay D., Gilmore, Edward C., Poduri, Annapurna et al. · 2012 · Cell
  29. TT-seq maps the human transient transcriptome
    Björn Schwalb, Margaux Michel, Benedikt Zacher, Katja Frühauf, Carina Demel, Achim Tresch, Julien Gagneur, Patrick Cramer · 2016 · Science
  30. Reprogramming in vivo produces teratomas and iPS cells with totipotency features
    Abad, María, Mosteiro, Lluc, Pantoja, Cristina, Cañamero, Marta, Rayon, Teresa, Ors, Inmaculada, Graña, Osvaldo, Megías, Diego, Domínguez, Orlando, Martínez, Dolores et al. · 2013 · Nature
  31. Predominant archaea in marine sediments degrade detrital proteins
    Karen G. Lloyd, Lars Schreiber, Dorthe Groth Petersen, Kasper Urup Kjeldsen, Mark A. Lever, Andrew D. Steen, Ramūnas Stepanauskas, Michael Richter, Sara Kleindienst, Sabine Lenk et al. · 2013 · Nature
  32. Single-cell methylomes identify neuronal subtypes and regulatory elements in mammalian cortex
    Luo, Chongyuan, Keown, Christopher L., Kurihara, Laurie, Zhou, Jingtian, He, Yupeng, Li, Junhao, Castanon, Rosa, Lucero, Jacinta, Nery, Joseph R., Sandoval, Justin P. et al. · 2017 · Science
  33. Nuclear m6A reader YTHDC1 regulates alternative polyadenylation and splicing during mouse oocyte development
    Seth D. Kasowitz, Jun Ma, Stephen J. Anderson, Nicolae Adrian Leu, Yang Xu, Brian D. Gregory, Richard M. Schultz, P. Jeremy Wang · 2018 · PLoS Genetics
  34. The pangenome of an agronomically important crop plant Brassica oleracea
    Agnieszka A. Golicz, Philipp E. Bayer, Guy C. Barker, Patrick P. Edger, Hye Ran Kim, Paula Andrea Martinez, Chon‐Kit Kenneth Chan, Anita Alice Severn‐Ellis, William Richard McCombie, Isobel A. P. Parkin et al. · 2016 · Nature Communications
  35. Alignment-free sequence comparison: benefits, applications, and tools
    Andrzej Zieleziński, Susana Vinga, Jonas S. Almeida, Wojciech Maciej Karlowski · 2017 · Genome biology
  36. The genomic landscape underlying phenotypic integrity in the face of gene flow in crows
    Jelmer W. Poelstra, Nagarjun Vijay, Christen M. Bossu, Henrik Lantz, Bettina Ryll, I. Müller, Vittorio Baglione, Per Unneberg, Martin C. Wikelski, Manfred G. Grabherr et al. · 2014 · Science
  37. Genomic evidence for the Pleistocene and recent population history of Native Americans
    Raghavan, Maanasa, Steinrücken, Matthias, Harris, Kelley, Schiffels, Stephan, Rasmussen, Simon, DeGiorgio, Michael, Albrechtsen, Anders, Valdiosera, Cristina, Ávila-Arcos, María C., Malaspinas, Anna-Sapfo et al. · 2015 · Science
  38. Pan-cancer analyses reveal cancer-type-specific fungal ecologies and bacteriome interactions
    Narunsky-Haziza, Lian, Sepich-Poore, Gregory D., Livyatan, Ilana, Asraf, Omer, Martino, Cameron, Nejman, Deborah, Gavert, Nancy, Stajich, Jason E., Amit, Guy, González, Antonio et al. · 2022 · Cell
  39. A high-quality carrot genome assembly provides new insights into carotenoid accumulation and asterid genome evolution
    Massimo Iorizzo, Shelby L. Ellison, Douglas A. Senalik, Peng Zeng, Pimchanok Satapoomin, Jiaying Huang, Megan J. Bowman, Marina Iovene, Walter Sanseverino, Pablo F. Cavagnaro et al. · 2016 · Nature Genetics
  40. inStrain profiles population microdiversity from metagenomic data and sensitively detects shared microbial strains
    Olm, Matthew R., Crits-Christoph, Alexander, Bouma-Gregson, Keith, Firek, Brian A., Morowitz, Michael J., Banfield, Jillian F. · 2021 · Nature Biotechnology
  41. Methylotrophic methanogenesis discovered in the archaeal phylum Verstraetearchaeota
    Inka Vanwonterghem, Paul N. Evans, Donovan H. Parks, Paul D. Jensen, Ben J. Woodcroft, Philip Hugenholtz, Gene W. Tyson · 2016 · Nature Microbiology
  42. Spatial and Temporal Mapping of De Novo Mutations in Schizophrenia to a Fetal Prefrontal Cortical Network
    Gulsuner, Suleyman, Walsh, Tom, Watts, Amanda C., Lee, Ming K., Thornton, Anne M., Casadei, Silvia, Rippey, Caitlin, Shahin, Hashem, Braff, David, Cadenhead, Kristin S. et al. · 2013 · Cell
  43. The genome of the offspring of a Neanderthal mother and a Denisovan father
    Viviane Slon, Fabrizio Mafessoni, Benjamin Vernot, Cesare de Filippo, Steffi Grote, Bence Viola, Mateja Hajdinjak, Stéphane Peyrégne, Sarah Nagel, Samantha Brown et al. · 2018 · Nature
  44. A mitochondrial genome sequence of a hominin from Sima de los Huesos
    Meyer, Matthias, Fu, Qiaomei, Aximu-Petri, Ayinuer, Glocke, Isabelle, Nickel, Birgit, Arsuaga, Juan-Luis, Martínez, Ignacio, Gracia, Ana, de Castro, José María Bermúdez, Carbonell, Eudald et al. · 2014 · Nature
  45. Leukemia-associated somatic mutations drive distinct patterns of age-related clonal hemopoiesis
    McKerrell, Thomas, Park, Naomi, Moreno, Thaidy, Grove, Carolyn S., Ponstingl, Hannes, Stephens, Jonathan, Crawley, Charles, Craig, Jenny, Scott, Mike A., Hodkinson, Clare et al. · 2015 · Cell Reports
  46. Lineage Tracing in Humans Enabled by Mitochondrial Mutations and Single-Cell Genomics
    Leif S. Ludwig, Caleb A. Lareau, Jacob C. Ulirsch, Elena Christian, Christoph Muus, Lauren H. Li, Karin Pelka, William H. Ge, Yaara Oren, Alison Brack et al. · 2019 · Cell
  47. Bacterial Vesicles in Marine Ecosystems
    Steven J. Biller, Florence Schubotz, Sara E. Roggensack, Anne Thompson, Roger Everett Summons, Sallie W. Chisholm · 2014 · Science
  48. The locust genome provides insight into swarm formation and long-distance flight
    Xianhui Wang, Xiaodong Fang, Pengcheng Yang, Xuanting Jiang, Feng Jiang, Dejian Zhao, Bolei Li, Feng Cui, Jianing Wei, Chuan Ma et al. · 2014 · Nature Communications
  49. RNA-seq: from technology to biology
    Samuel Marguerat, Jürg Bähler · 2009 · Cellular and Molecular Life Sciences
  50. CAG Repeat Not Polyglutamine Length Determines Timing of Huntington’s Disease Onset
    Jong‐Min Lee, Kevin Correia, Jacob M. Loupe, Kyung‐Hee Kim, Douglas Barker, Eun Pyo Hong, Michael J. Chao, Jeffrey D. Long, Diane E. Lucente, Jean Paul Vonsattel et al. · 2019 · Cell
  51. Piercing the dark matter: bioinformatics of long-range sequencing and mapping
    Sedlazeck, Fritz J., Lee, Hayan, Darby, Charlotte A., Schatz, Michael C. · 2018 · Nature Reviews Genetics
  52. Uncovering hidden variation in polyploid wheat
    Ksenia V. Krasileva, Hans A. Vasquez-Gross, T. A. Howell, Paul C. E. Bailey, Francine Paraiso, Leah Clissold, James Simmonds, Ricardo Humberto Ramirez-Gonzalez, Xiaodong Wang, Philippa Borrill et al. · 2017 · Proceedings of the National Academy of Sciences
  53. Total synthesis of Escherichia coli with a recoded genome
    Julius Fredens, Kaihang Wang, Daniel de la Torre, Louise F. H. Funke, Wesley E. Robertson, Yonka Christova, Tiongsun Chia, Wolfgang Hellmut Schmied, Daniel L. Dunkelmann, Václav Beránek et al. · 2019 · Nature
  54. Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma
    Iñaki Comino‐Méndez, Francisco Javier Gracia-Aznárez, Francesca Schiavi, Iñigo Landa, Luis Javier Leandro-Garcia, Rocío Letón, Emiliano Honrado, Rocío Ramos‐Medina, Daniela Caronia, Guillermo Pita et al. · 2011 · Nature Genetics
  55. Mutations in IL36RN/IL1F5 Are Associated with the Severe Episodic Inflammatory Skin Disease Known as Generalized Pustular Psoriasis
    Alexandros Onoufriadis, Michael A. Simpson, Andrew Pink, Paola Di Meglio, Catherine H. Smith, Venu Pullabhatla, Jo Knight, Sarah L. Spain, Frank Oliver Nestle, Arthur David Burden et al. · 2011 · The American Journal of Human Genetics
  56. De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy
    Barcia, Giulia, Fleming, Matthew R, Deligniere, Aline, Gazula, Valeswara-Rao, Brown, Maile R, Langouet, Maeva, Chen, Haijun, Kronengold, Jack, Abhyankar, Avinash, Cilio, Roberta et al. · 2012 · Nature Genetics
  57. <i>SMN2</i> splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy
    Naryshkin, Nikolai A., Weetall, Marla, Dakka, Amal, Narasimhan, Jana, Zhao, Xin, Feng, Zhihua, Ling, Karen K. Y., Karp, Gary M., Qi, Hongyan, Woll, Matthew G. et al. · 2014 · Science
  58. The histone mark H3K36me2 recruits DNMT3A and shapes the intergenic DNA methylation landscape
    Weinberg, Daniel N., Papillon-Cavanagh, Simon, Chen, Haifen, Yue, Yuan, Chen, Xiao, Rajagopalan, Kartik N., Horth, Cynthia, McGuire, John T., Xu, Xinjing, Nikbakht, Hamid et al. · 2019 · Nature
  59. A supergene determines highly divergent male reproductive morphs in the ruff
    Clemens Küpper, Michael Stocks, Judith E. Risse, Natalie dos Remedios, Lindsay L. Farrell, Susan B. McRae, Tawna C. Morgan, Natalia Karlionova, Pavel Pinchuk, Yvonne I. Verkuil et al. · 2015 · Nature Genetics
  60. TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A
    Anna‐Leigh Brown, Oscar G. Wilkins, Matthew J. Keuss, Sarah E. Kargbo-Hill, Matteo Zanovello, Weaverly Colleen Lee, Alexander Bampton, Flora C. Y. Lee, Laura Masino, Yue Andy Qi et al. · 2022 · Nature
  61. The GEM mapper: fast, accurate and versatile alignment by filtration
    Santiago Marco‐Sola, Michael Sammeth, Roderic Guigó, Paolo Ribeca · 2012 · Nature Methods
  62. Pseudouridylation of tRNA-Derived Fragments Steers Translational Control in Stem Cells
    Nicola Guzzi, Maciej Cieśla, Phuong Cao Thi Ngoc, Stefan Lang, Sonali Arora, Marios Dimitriou, Kristýna Pimková, Mikael N.E. Sommarin, Roberto Munita, Michał Lubas et al. · 2018 · Cell
  63. EAGER: efficient ancient genome reconstruction
    Peltzer, Alexander, Jäger, Günter, Herbig, Alexander, Seitz, Alexander, Kniep, Christian, Krause, Johannes, Nieselt, Kay · 2016 · Genome Biology
  64. An overview of the HDF5 technology suite and its applications
    Mike Folk, Gerd Heber, Quincey Koziol, Elena Pourmal, Dana Robinson · 2011
  65. Enzymatic methyl sequencing detects DNA methylation at single-base resolution from picograms of DNA
    Romualdas Vaisvila, V. K. Chaithanya Ponnaluri, Zhiyi Sun, Bradley W. Langhorst, Lana Saleh, Shengxi Guan, Nan Dai, Matthew A. Campbell, Brittany S. Sexton, Katherine Marks et al. · 2021 · Genome Research
  66. Southern African ancient genomes estimate modern human divergence to 350,000 to 260,000 years ago
    Schlebusch, Carina M., Malmström, Helena, Günther, Torsten, Sjödin, Per, Coutinho, Alexandra, Edlund, Hanna, Munters, Arielle R., Vicente, Mário, Steyn, Maryna, Soodyall, Himla et al. · 2017 · Science
  67. Circulating Tumor DNA Genomics Correlate with Resistance to Abiraterone and Enzalutamide in Prostate Cancer
    Matti Annala, Gillian Rae Vandekerkhove, Daniel Joseph Khalaf, Sinja Taavitsainen, Kevin Beja, Evan W. Warner, Katherine Sunderland, Christian Kollmannsberger, Bernhard J. Eigl, Daygen L. Finch et al. · 2018 · Cancer Discovery
  68. Punctuated copy number evolution and clonal stasis in triple-negative breast cancer
    Ruli Gao, Alexander Davis, Thomas O. McDonald, Emi Sei, Xiuqing Shi, Yong Wang, Pei Ching Tsai, Tod D. Casasent, Jill Waters, Hong Zhang et al. · 2016 · Nature Genetics
  69. Accurate detection of m6A RNA modifications in native RNA sequences
    Huanle Liu, Oguzhan Begik, Morghan C. Lucas, José Miguel Ramírez, Christopher E. Mason, David Wiener, Schraga Schwartz, John S. Mattick, Martin A. Smith, Eva Maria Novoa · 2019 · Nature Communications
  70. Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data
    arcOGEN Consortium, Tachmazidou, Ioanna, Hatzikotoulas, Konstantinos, Southam, Lorraine, Esparza-Gordillo, Jorge, Haberland, Valeriia, Zheng, Jie, Johnson, Toby, Koprulu, Mine, Zengini, Eleni et al. · 2019 · Nature Genetics
  71. Characterization of ancient and modern genomes by SNP detection and phylogenomic and metagenomic analysis using PALEOMIX
    Mikkel Schubert, Luca Ermini, Clio S. I. Der Sarkissian, Hákon Jónsson, Aurélien Ginolhac, Robert Schaefer, Michael D. Martin, Ruth Fernández, Martin Kircher, Molly E. McCue et al. · 2014 · Nature Protocols
  72. Mitochondrial DNA copy number variation across human cancers
    Ed Reznik, Martin L. Miller, Yasin Şenbabaoğlu, Nadeem Riaz, Judy Sarungbam, Satish K. Tickoo, Hikmat A Al‐Ahmadie, William Lee, Venkatraman Seshan, A. Ari Hakimi et al. · 2016 · eLife
  73. A Comprehensive Roadmap of Murine Spermatogenesis Defined by Single-Cell RNA-Seq
    Christopher Daniel Green, Qianyi Ma, Gabriel L. Manske, Adrienne Niederriter Shami, Xianing Zheng, Simone Marini, Lindsay Moritz, Caleb Sultan, Stephen J. Gurczynski, Bethany B. Moore et al. · 2018 · Developmental Cell
  74. 3D Chromatin Structures of Mature Gametes and Structural Reprogramming during Mammalian Embryogenesis
    Yuwen Ke, Yanan Xu, Xuepeng Chen, Songjie Feng, Zhenbo Liu, Yaoyu Sun, Xuelong Yao, Fangzhen Li, Wei Zhong Zhu, Lei Gao et al. · 2017 · Cell
  75. Massive haplotypes underlie ecotypic differentiation in sunflowers
    Todesco, Marco, Owens, Gregory L., Bercovich, Natalia, Légaré, Jean-Sébastien, Soudi, Shaghayegh, Burge, Dylan O., Huang, Kaichi, Ostevik, Katherine L., Drummond, Emily B. M., Imerovski, Ivana et al. · 2020 · Nature
  76. Systematic evaluation of spliced alignment programs for RNA-seq data
    The RGASP Consortium, Engström, Pär G, Steijger, Tamara, Sipos, Botond, Grant, Gregory R, Kahles, André, Rätsch, Gunnar, Goldman, Nick, Hubbard, Tim J, Harrow, Jennifer et al. · 2013 · Nature Methods
  77. A Single-Cell Transcriptomic Atlas of Human Neocortical Development during Mid-gestation
    Polioudakis, Damon, de la Torre-Ubieta, Luis, Langerman, Justin, Elkins, Andrew G., Shi, Xu, Stein, Jason L., Vuong, Celine K., Nichterwitz, Susanne, Gevorgian, Melinda, Opland, Carli K. et al. · 2019 · Neuron
  78. Genomic Diversity of Severe Acute Respiratory Syndrome–Coronavirus 2 in Patients With Coronavirus Disease 2019
    Shen, Zijie, Xiao, Yan, Kang, Lu, Ma, Wentai, Shi, Leisheng, Zhang, Li, Zhou, Zhuo, Yang, Jing, Zhong, Jiaxin, Yang, Donghong et al. · 2020 · Clinical Infectious Diseases
  79. The auxin-inducible degron 2 technology provides sharp degradation control in yeast, mammalian cells, and mice
    Aisha Yesbolatova, Yuichiro Saito, Naomi Kitamoto, Hatsune Makino‐Itou, Rieko Ajima, Risako Nakano, Hirofumi Nakaoka, Kosuke Fukui, Kanae Gamo, Yusuke Tominari et al. · 2020 · Nature Communications
  80. Genetic Ancestry and Natural Selection Drive Population Differences in Immune Responses to Pathogens
    Nédélec, Yohann, Sanz, Joaquín, Baharian, Golshid, Szpiech, Zachary A., Pacis, Alain, Dumaine, Anne, Grenier, Jean-Christophe, Freiman, Andrew, Sams, Aaron J., Hebert, Steven et al. · 2016 · Cell
  81. High-throughput gene targeting and phenotyping in zebrafish using CRISPR/Cas9
    Gaurav K. Varshney, Wuhong Pei, Matthew C. LaFave, Jennifer Idol, Lisha Xu, Viviana E. Gallardo, Blake Carrington, Kevin S. Bishop, MaryPat S. Jones, Mingyu Li et al. · 2015 · Genome Research
  82. Performance comparison of exome DNA sequencing technologies
    Michael James Clark, Rui Chen, Hugo Y. K. Lam, Konrad J. Karczewski, Rong Chen, Ghia M. Euskirchen, Atul Janardhan Butte, Michael P. Snyder · 2011 · Nature Biotechnology
  83. Somatic mutation landscapes at single-molecule resolution
    Federico Abascal, Luke M. R. Harvey, Emily Mitchell, Andrew R. J. Lawson, Stefanie V. Lensing, Peter Ellis, Andrew J. C. Russell, Raul E. Alcantara, Adrian Baez‐Ortega, Yichen Wang et al. · 2021 · Nature
  84. An evolutionary arms race between KRAB zinc-finger genes ZNF91/93 and SVA/L1 retrotransposons
    Jacobs, Frank M. J., Greenberg, David, Nguyen, Ngan, Haeussler, Maximilian, Ewing, Adam D., Katzman, Sol, Paten, Benedict, Salama, Sofie R., Haussler, David · 2014 · Nature
  85. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
    Bilgüvar, Kaya, Öztürk, Ali Kemal, Louvi, Angeliki, Kwan, Kenneth Y., Choi, Murim, Tatlı, Burak, Yalnızoğlu, Dilek, Tüysüz, Beyhan, Çağlayan, Ahmet Okay, Gökben, Sarenur et al. · 2010 · Nature
  86. Detecting ultralow-frequency mutations by Duplex Sequencing
    Kennedy, Scott R, Schmitt, Michael W, Fox, Edward J, Kohrn, Brendan F, Salk, Jesse J, Ahn, Eun Hyun, Prindle, Marc J, Kuong, Kawai J, Shen, Jiang-Cheng, Risques, Rosa-Ana et al. · 2014 · Nature Protocols
  87. Falco: high-speed FastQC emulation for quality control of sequencing data
    Guilherme De Sena Brandine, Andrew D. Smith · 2019 · F1000Research
  88. Identification of antimicrobial peptides from the human gut microbiome using deep learning
    Yue Ma, Zhengyan Guo, Binbin Xia, Yuwei Zhang, Xiaolin Liu, Ying Yu, Na Tang, Xiaomei Tong, Min Wang, Xin Ye et al. · 2022 · Nature Biotechnology
  89. Assemblathon 1: A competitive assessment of de novo short read assembly methods
    Dent A. Earl, Keith R. Bradnam, John St. John, Aaron E. Darling, Dawei Lin, Joseph Fass, Hung On Ken Yu, Vince Buffalo, Daniel R. Zerbino, Mark Diekhans et al. · 2011 · Genome Research
  90. SQ109 Targets MmpL3, a Membrane Transporter of Trehalose Monomycolate Involved in Mycolic Acid Donation to the Cell Wall Core of Mycobacterium tuberculosis
    Kapil Tahlan, Regina Wilson, David B. Kastrinsky, Kriti Arora, Vinod Nair, Elizabeth R. Fischer, S. Whitney Barnes, John R. Walker, David Alland, Clifton E. Barry et al. · 2012 · Antimicrobial Agents and Chemotherapy
  91. MAFG-driven astrocytes promote CNS inflammation
    Wheeler, Michael A., Clark, Iain C., Tjon, Emily C., Li, Zhaorong, Zandee, Stephanie E. J., Couturier, Charles P., Watson, Brianna R., Scalisi, Giulia, Alkwai, Sarah, Rothhammer, Veit et al. · 2020 · Nature
  92. Prediction of Susceptibility to First-Line Tuberculosis Drugs by DNA Sequencing
    The CRyPTIC Consortium and the 100,000 Genomes Project · 2018 · New England Journal of Medicine
  93. Separating endogenous ancient DNA from modern day contamination in a Siberian Neandertal
    Skoglund, Pontus, Northoff, Bernd H., Shunkov, Michael V., Derevianko, Anatoli P., Pääbo, Svante, Krause, Johannes, Jakobsson, Mattias · 2014 · Proceedings of the National Academy of Sciences
  94. proovread : large-scale high-accuracy PacBio correction through iterative short read consensus
    Thomas Hackl, Rainer Hedrich, Jörg Schultz, Frank Förster · 2014 · Bioinformatics
  95. Whole-genome sequencing reveals untapped genetic potential in Africa’s indigenous cereal crop sorghum
    Emma Mace, Shuaishuai Tai, Edward K. Gilding, Yanhong Li, Peter J. Prentis, Lianle Bian, Bradley C. Campbell, Wushu Hu, David J. Innes, Xuelian Han et al. · 2013 · Nature Communications
  96. Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type
    Leora Witkowski, Jian Carrot‐Zhang, Steffen Albrecht, Somayyeh Fahiminiya, Nancy Hamel, Eva M. Tomiak, David Grynspan, Emmanouil S. Saloustros, Javad Nadaf, Bárbara Rivera et al. · 2014 · Nature Genetics
  97. Genome-based microbial ecology of anammox granules in a full-scale wastewater treatment system
    Daan R. Speth, Michiel H. in ‘t Zandt, Simon Guerrero-Cruz, Bas E. Dutilh, Mike S. M. Jetten · 2016 · Nature Communications
  98. Exome sequencing identifies distinct mutational patterns in liver fluke–related and non-infection-related bile duct cancers
    Waraporn Chan-on, Maarja‐Liisa Nairismägi, Choon Kiat Ong, Weng Khong Lim, Simona Dima, Chawalit Pairojkul, Kiat Hon Lim, John Richard McPherson, Ioana Cutcutache, Hong Lee Heng et al. · 2013 · Nature Genetics
  99. ShortStack: Comprehensive annotation and quantification of small RNA genes
    Michael J. Axtell · 2013 · RNA
  100. The Human Pangenome Project: a global resource to map genomic diversity
    Wang, Ting, Antonacci-Fulton, Lucinda, Howe, Kerstin, Lawson, Heather A., Lucas, Julian K., Phillippy, Adam M., Popejoy, Alice B., Asri, Mobin, Carson, Caryn, Chaisson, Mark J. P. et al. · 2022 · Nature