A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w 1118 ; iso-2; iso-3

Cingolani, Pablo, Platts, Adrian, Wang, Le Lily, Coon, Melissa, Nguyen, Tung, Wang, Luan, Land, Susan J., Lu, Xiangyi +1 more·2012·Fly

Cited by (146)

Items 101–146 of 146

  1. A natural mutator allele shapes mutation spectrum variation in mice
    Sasani, Thomas A., Ashbrook, David G., Beichman, Annabel C., Lu, Lu, Palmer, Abraham A., Williams, Robert W., Pritchard, Jonathan K., Harris, Kelley · 2022 · Nature
  2. Identification of PENDRIN (SLC26A4) Mutations in Patients With Congenital Hypothyroidism and “Apparent” Thyroid Dysgenesis
    Kühnen, Peter, Turan, Serap, Fröhler, Sebastian, Güran, Tülay, Abali, Saygin, Biebermann, Heike, Bereket, Abdullah, Grüters, Annette, Chen, Wei, Krude, Heiko · 2014 · The Journal of Clinical Endocrinology & Metabolism
  3. Antifungal Tolerance and Resistance Emerge at Distinct Drug Concentrations and Rely upon Different Aneuploid Chromosomes
    Yang, Feng, Scopel, Eduardo F. C., Li, Hao, Sun, Liu-liu, Kawar, Nora, Cao, Yong-bing, Jiang, Yuan-Ying, Berman, Judith · 2023 · mBio
  4. Decreased echinocandin susceptibility in <i>Candida parapsilosis</i> causing candidemia and emergence of a pan-echinocandin resistant case in China
    Ning, Yating, Xiao, Meng, Perlin, David S., Zhao, Yanan, Lu, Minya, Li, Yi, Luo, Zhengyu, Dai, Rongchen, Li, Shengjie, Xu, Jiajun et al. · 2023 · Emerging Microbes &amp; Infections
  5. Antifungal heteroresistance causes prophylaxis failure and facilitates breakthrough Candida parapsilosis infections
    Zhai, Bing, Liao, Chen, Jaggavarapu, Siddharth, Tang, Yuanyuan, Rolling, Thierry, Ning, Yating, Sun, Tianshu, Bergin, Sean A., Gjonbalaj, Mergim, Miranda, Edwin et al. · 2024 · Nature Medicine
  6. Cancer Stem Cell-Based Models of Colorectal Cancer Reveal Molecular Determinants of Therapy Resistance
    De Angelis, Maria Laura, Zeuner, Ann, Policicchio, Eleonora, Russo, Giorgio, Bruselles, Alessandro, Signore, Michele, Vitale, Sara, De Luca, Gabriele, Pilozzi, Emanuela, Boe, Alessandra et al. · 2016 · Stem Cells Translational Medicine
  7. Antifungal Drug Concentration Impacts the Spectrum of Adaptive Mutations in <i>Candida albicans</i>
    Todd, Robert T, Soisangwan, Natthapon, Peters, Sam, Kemp, Bailey, Crooks, Taylor, Gerstein, Aleeza, Selmecki, Anna · 2023 · Molecular Biology and Evolution
  8. Dissection of subclonal evolution by temporal mutation profiling in chronic lymphocytic leukemia patients treated with ibrutinib
    Gángó, Ambrus, Alpár, Donát, Galik, Bence, Marosvári, Dóra, Kiss, Richárd, Fésüs, Viktória, Aczél, Dóra, Eyüpoglu, Ediz, Nagy, Noémi, Nagy, Ákos et al. · 2020 · International Journal of Cancer
  9. Tandem gene duplications contributed to high-level azole resistance in a rapidly expanding Candida tropicalis population
    Fan, Xin, Dai, Rong-Chen, Zhang, Shu, Geng, Yuan-Yuan, Kang, Mei, Guo, Da-Wen, Mei, Ya-Ning, Pan, Yu-Hong, Sun, Zi-Yong, Xu, Ying-Chun et al. · 2023 · Nature Communications
  10. Population history and gene divergence in native Mexicans inferred from 76 human exomes
    Ávila-Arcos, María C, McManus, Kimberly F, Sandoval, Karla, Rodríguez-Rodríguez, Juan Esteban, Villa-Islas, Viridiana, Martin, Alicia R, Luisi, Pierre, Peñaloza-Espinosa, Rosenda I, Eng, Celeste, Huntsman, Scott et al. · 2020 · Molecular Biology and Evolution
  11. TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability
    Heimer, Gali, Oz-Levi, Danit, Eyal, Eran, Edvardson, Shimon, Nissenkorn, Andreea, Ruzzo, Elizabeth K., Szeinberg, Amir, Maayan, Channa, Mai-Zahav, Meir, Efrati, Ori et al. · 2016 · European Journal of Paediatric Neurology
  12. An Updated Collection of Sequence Barcoded Temperature-Sensitive Alleles of Yeast Essential Genes
    Kofoed, Megan, Milbury, Karissa L, Chiang, Jennifer H, Sinha, Sunita, Ben-Aroya, Shay, Giaever, Guri, Nislow, Corey, Hieter, Philip, Stirling, Peter C · 2015 · G3 Genes|Genomes|Genetics
  13. The lingering effects of Neanderthal introgression on human complex traits
    Wei, Xinzhu, Robles, Christopher R, Pazokitoroudi, Ali, Ganna, Andrea, Gusev, Alexander, Durvasula, Arun, Gazal, Steven, Loh, Po-Ru, Reich, David, Sankararaman, Sriram · 2023 · eLife
  14. Genotypic diversity and unrecognized antifungal resistance among populations of Candida glabrata from positive blood cultures
    Badrane, Hassan, Cheng, Shaoji, Dupont, Chris, Hao, Binghua, Driscoll, Eileen, Morder, Kristen, Liu, Guojun, Newbrough, Anthony, Fleres, Giuseppe, Kaul, Drishti et al. · 2023
  15. mtDNA mutations in human aging and longevity: controversies and new perspectives opened by high-throughput technologies
    Sevini, Federica, Giuliani, Cristina, Vianello, Dario, Giampieri, Enrico, Santoro, Aurelia, Biondi, Fiammetta, Garagnani, Paolo, Passarino, Giuseppe, Luiselli, Donata, Capri, Miriam et al. · 2014 · Experimental Gerontology
  16. A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases
    Novice, Taylor, Kariminia, Amina, Del Bel, Kate L., Lu, Henry, Sharma, Mehul, Lim, Chinten J., Read, Jay, Lugt, Mark Vander, Hannibal, Mark C., O’Dwyer, David et al. · 2020 · Journal of Clinical Immunology
  17. A Chinese indicine pangenome reveals a wealth of novel structural variants introgressed from other<i>Bos</i>species
    Dai, Xuelei, Bian, Peipei, Hu, Dexiang, Luo, Funong, Huang, Yongzhen, Jiao, Shaohua, Wang, Xihong, Gong, Mian, Li, Ran, Cai, Yudong et al. · 2023 · Genome Research
  18. Roles for Stress Response and Cell Wall Biosynthesis Pathways in Caspofungin Tolerance in <i>Cryptococcus neoformans</i>
    Pianalto, Kaila M, Billmyre, R Blake, Telzrow, Calla L, Alspaugh, J Andrew · 2019 · Genetics
  19. Genome-Wide Association Analysis Reveals QTL and Candidate Mutations Involved in White Spotting in Cattle
    Jivanji, Swati, Worth, Gemma, Lopdell, Thomas J., Yeates, Anna, Couldrey, Christine, Reynolds, Edwardo, Tiplady, Kathryn, McNaughton, Lorna, Johnson, Thomas J. J., Davis, Stephen R. et al. · 2019 · Genetics Selection Evolution
  20. Genome sequencing in persistently unsolved white matter disorders
    Helman, Guy, Lajoie, Bryan R., Crawford, Joanna, Takanohashi, Asako, Walkiewicz, Marzena, Dolzhenko, Egor, Gross, Andrew M., Gainullin, Vladimir G., Bent, Stephen J., Jenkinson, Emma M. et al. · 2020 · Annals of Clinical and Translational Neurology
  21. The genetic consequences of dog breed formation—Accumulation of deleterious genetic variation and fixation of mutations associated with myxomatous mitral valve disease in cavalier King Charles spaniels
    Axelsson, Erik, Ljungvall, Ingrid, Bhoumik, Priyasma, Conn, Laura Bas, Muren, Eva, Ohlsson, Åsa, Olsen, Lisbeth Høier, Engdahl, Karolina, Hagman, Ragnvi, Hanson, Jeanette et al. · 2021 · PLOS Genetics
  22. VIPdb, a genetic variant impact predictor database
    Hu, Zhiqiang, Yu, Changhua, Furutsuki, Mabel, Andreoletti, Gaia, Ly, Melissa, Hoskins, Roger, Adhikari, Aashish N., Brenner, Steven E. · 2019 · Human Mutation
  23. Acquisition of cross-azole tolerance and aneuploidy in <i>Candida albicans</i> strains evolved to posaconazole
    Kukurudz, Rebekah J, Chapel, Madison, Wonitowy, Quinn, Adamu Bukari, Abdul-Rahman, Sidney, Brooke, Sierhuis, Riley, Gerstein, Aleeza C · 2022 · G3
  24. Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program
    Cade, Brian E., Lee, Jiwon, Sofer, Tamar, Wang, Heming, Zhang, Man, Chen, Han, Gharib, Sina A., Gottlieb, Daniel J., Guo, Xiuqing, Lane, Jacqueline M. et al. · 2021 · Genome Medicine
  25. The dynamics of adaptation to stress from standing genetic variation and de novo mutations
    Ament-Velásquez, Sandra Lorena, Gilchrist, Ciaran, Rêgo, Alexandre, Bendixsen, Devin P, Brice, Claire, Grosse-Sommer, Julie Michelle, Rafati, Nima, Stelkens, Rike · 2022 · Molecular Biology and Evolution
  26. The Impact of Modern Admixture on Archaic Human Ancestry in Human Populations
    Witt, Kelsey E, Funk, Alyssa, Añorve-Garibay, Valeria, Fang, Lesly Lopez, Huerta-Sánchez, Emilia · 2023 · Genome Biology and Evolution
  27. Exploring the Genomes of East African Indicine Cattle Breeds Reveals Signature of Selection for Tropical Environmental Adaptation Traits
    Taye, Mengistie, Lee, Wonseok, Caetano-Anolles, Kelsey, Dessie, Tadelle, Cho, Seoae, Jong Oh, Sung, Lee, Hak-Kyo, Kim, Heebal · 2018 · Cogent Food &amp; Agriculture
  28. Non-homologous end-joining-deficient filamentous fungal strains mitigate the impact of off-target mutations during the application of CRISPR/Cas9
    Garrigues, Sandra, Peng, Mao, Kun, Roland S., de Vries, Ronald P. · 2023 · mBio
  29. Whole Genome Sequencing Reveals Signals of Adaptive Admixture in Creole Cattle
    Ben-Jemaa, Slim, Adam, Gabriele, Boussaha, Mekki, Bardou, Philippe, Klopp, Christophe, Mandonnet, Nathalie, Naves, Michel · 2023 · Scientific Reports
  30. Population genomics of the muskox' resilience in the near absence of genetic variation
    Pečnerová, Patrícia, Lord, Edana, Garcia‐Erill, Genís, Hanghøj, Kristian, Rasmussen, Malthe Sebro, Meisner, Jonas, Liu, Xiaodong, van der Valk, Tom, Santander, Cindy G., Quinn, Liam et al. · 2024 · Molecular Ecology
  31. A biallelic truncating <i>AEBP1</i> variant causes connective tissue disorder in two siblings
    Hebebrand, Moritz, Vasileiou, Georgia, Krumbiegel, Mandy, Kraus, Cornelia, Uebe, Steffen, Ekici, Arif B., Thiel, Christian T., Reis, André, Popp, Bernt · 2019 · American Journal of Medical Genetics Part A
  32. Genomic Insights into the Population History and Adaptive Traits of Latin American Criollo Cattle
    Ward, James A., Ng'ang'a, Said I., Randhawa, Imtiaz A. S., McHugo, Gillian P., O'Grady, John F., Flórez, Julio M., Browne, John A., Pérez O’Brien, Ana M., Landaeta-Hernández, Antonio J., Garcia, Jóse F. et al. · 2024 · Royal Society Open Science
  33. Whole-genome sequencing reveals the extent of heterozygosity in a preferentially self-fertilizing hermaphroditic vertebrate
    Lins, Luana S.F., Trojahn, Shawn, Sockell, Alexandra, Yee, Muh-Ching, Tatarenkov, Andrey, Bustamante, Carlos D., Earley, Ryan L., Kelley, Joanna L. · 2018 · Genome
  34. Cancer-Associated Fibroblast Proteins as Potential Targets against Colorectal Cancers
    Shah, Ruchi, Johnson, Katherine A., Lippert, Anna E. L., Kraus, Sean G., Emmerich, Philip B., Pasch, Cheri A., Zhang, Wei, Matkowskyj, Kristina A., LeBeau, Aaron M., Deming, Dustin A. · 2024 · Cancers
  35. Rare genetic variants confer a high risk of ADHD and implicate neuronal biology
    Demontis, Ditte, Duan, Jinjie, Hsu, Yu-Han H., Pintacuda, Greta, Grove, Jakob, Nielsen, Trine Tollerup, Thirstrup, Janne, Martorana, Makayla, Botts, Travis, Satterstrom, F. Kyle et al. · 2026 · Nature
  36. Transcription factors instruct DNA methylation patterns in plant reproductive tissues
    Xu, Guanghui, Chen, Yuhan, Wang, Fuxi, Li, En, Law, Julie A. · 2025
  37. Nearly Half of <i>TP53</i> Germline Variants Predicted To Be Pathogenic in Patients With Osteosarcoma Are De Novo: A Report From the Children’s Oncology Group
    Diessner, Brandon J., Pankratz, Nathan, Hooten, Anthony J., Mirabello, Lisa, Sarver, Aaron L., Mills, Lauren J., Malkin, David, Kelley, Ava C., Spector, Logan G. · 2020 · JCO Precision Oncology
  38. Evolutionary rescue of phosphomannomutase deficiency in yeast models of human disease
    Vignogna, Ryan C, Allocca, Mariateresa, Monticelli, Maria, Norris, Joy W, Steet, Richard, Perlstein, Ethan O, Andreotti, Giuseppina, Lang, Gregory I · 2022 · eLife
  39. Cross-ancestry comparison of aptamer and antibody protein measures
    Nicholas, Jayna C., Katz, Daniel H., Tahir, Usman A., Debban, Catherine L., Aguet, Francois, Blackwell, Thomas, Bowler, Russell P., Broadaway, K. Alaine, Chen, Jingsha, Clish, Clary B. et al. · 2026 · Nature Communications
  40. Differential mitochondrial genome in patients with Rheumatoid Arthritis
    Jaiswal, Kumar Sagar, Khanna, Shweta, Ghosh, Arup, Padhan, Prasanta, Raghav, Sunil Kumar, Gupta, Bhawna · 2021 · Autoimmunity
  41. Genomes of critically endangered saola are shaped by population structure and purging
    Garcia-Erill, Genís, Liu, Shanlin, Le, Minh Duc, Hurley, Martha M., Nguyen, Hung Dinh, Nguyen, Dzung Quoc, Nguyen, Dzung Huy, Santander, Cindy G., Sánchez Barreiro, Fátima, Gomes Martins, Nuno Filipe et al. · 2025 · Cell
  42. Regional variation and adaptive evolution in Bifidobacterium pseudocatenulatum: Insights into genomic and functional diversity in human gut
    Wu, Qiong, Li, Weicheng, Kwok, Lai-yu, Lv, Huimin, Sun, Jiaqi, Sun, Zhihong · 2024 · Food Research International
  43. Whole Genome Analysis of Echinocandin Non‐Susceptible Candida Glabrata Clinical Isolates: a Multi‐Center Study in China
    Li, Yi, Hou, Xin, Li, Ruoyu, Liao, Kang, Ma, Ling, Wang, Xiaoming, Ji, Ping, Kong, Haishen, Xia, Yun, Ding, Hui et al. · 2023 · BMC Microbiology
  44. Identification of candidate genes for salt tolerance at seedling stage in rice using qtl-seq and chromosome segment substitution line-derived population
    Leawtrakun, Jiraporn, Aesomnuk, Wanchana, Khanthong, Srisawat, Dumhai, Reajina, Songtoasesakul, Decha, Phosuwan, Sunadda, Nuanpirom, Jiratchaya, Charoensawan, Varodom, Siangliw, Jonaliza L., Ruanjaichon, Vinitchan et al. · 2024 · Agronomy
  45. Whole‐Genome Sequencing and Single‐Cell Transcriptomics Identify Human Leukocyte Antigen Loci and a <i>COG5</i> Variant in Aortic Dissection
    Lin, Jinran, Wu, Shishi, Lin, Chenhao, Jin, Shilin, Chen, Lu, Luo, Jingchun, Xu, Shuhua, Jin, Li, Yu, Mengyao, Zheng, Yan et al. · 2026 · Journal of the American Heart Association
  46. A phenome-wide structural variant map from 467,152 UK Biobank genomes
    Atanur, Santosh S., Hu, Fengyuan, Lou, Haiyi, Li, Xiaoyin, Zou, Xueqing Zoe, O’Dell, Sean, Deevi, Sri V.V., Sawczuk, Paula, Megy, Karyn, Fairhurst-Hunter, Zammy et al. · 2026 · Cell