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
- A natural mutator allele shapes mutation spectrum variation in miceSasani, Thomas A., Ashbrook, David G., Beichman, Annabel C., Lu, Lu, Palmer, Abraham A., Williams, Robert W., Pritchard, Jonathan K., Harris, Kelley · 2022 · Nature
- Identification of PENDRIN (SLC26A4) Mutations in Patients With Congenital Hypothyroidism and “Apparent” Thyroid DysgenesisKühnen, 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
- Antifungal Tolerance and Resistance Emerge at Distinct Drug Concentrations and Rely upon Different Aneuploid ChromosomesYang, Feng, Scopel, Eduardo F. C., Li, Hao, Sun, Liu-liu, Kawar, Nora, Cao, Yong-bing, Jiang, Yuan-Ying, Berman, Judith · 2023 · mBio
- Decreased echinocandin susceptibility in
<i>Candida parapsilosis</i>
causing candidemia and emergence of a pan-echinocandin resistant case in ChinaNing, 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 & Infections
- Antifungal heteroresistance causes prophylaxis failure and facilitates breakthrough Candida parapsilosis infectionsZhai, 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
- Cancer Stem Cell-Based Models of Colorectal Cancer Reveal Molecular Determinants of Therapy ResistanceDe 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
- 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
- Dissection of subclonal evolution by temporal mutation profiling in chronic lymphocytic leukemia patients treated with ibrutinibGángó, 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
- Tandem gene duplications contributed to high-level azole resistance in a rapidly expanding Candida tropicalis populationFan, 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
- Population history and gene divergence in native Mexicans inferred from 76 human exomesÁvila-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
- TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disabilityHeimer, 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
- An Updated Collection of Sequence Barcoded Temperature-Sensitive Alleles of Yeast Essential GenesKofoed, 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
- The lingering effects of Neanderthal introgression on human complex traitsWei, Xinzhu, Robles, Christopher R, Pazokitoroudi, Ali, Ganna, Andrea, Gusev, Alexander, Durvasula, Arun, Gazal, Steven, Loh, Po-Ru, Reich, David, Sankararaman, Sriram · 2023 · eLife
- Genotypic diversity and unrecognized antifungal resistance among populations of Candida glabrata from positive blood culturesBadrane, Hassan, Cheng, Shaoji, Dupont, Chris, Hao, Binghua, Driscoll, Eileen, Morder, Kristen, Liu, Guojun, Newbrough, Anthony, Fleres, Giuseppe, Kaul, Drishti et al. · 2023
- mtDNA mutations in human aging and longevity: controversies and new perspectives opened by high-throughput technologiesSevini, Federica, Giuliani, Cristina, Vianello, Dario, Giampieri, Enrico, Santoro, Aurelia, Biondi, Fiammetta, Garagnani, Paolo, Passarino, Giuseppe, Luiselli, Donata, Capri, Miriam et al. · 2014 · Experimental Gerontology
- A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related DiseasesNovice, 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
- A Chinese indicine pangenome reveals a wealth of novel structural variants introgressed from other<i>Bos</i>speciesDai, Xuelei, Bian, Peipei, Hu, Dexiang, Luo, Funong, Huang, Yongzhen, Jiao, Shaohua, Wang, Xihong, Gong, Mian, Li, Ran, Cai, Yudong et al. · 2023 · Genome Research
- 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
- Genome-Wide Association Analysis Reveals QTL and Candidate Mutations Involved in White Spotting in CattleJivanji, 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
- Genome sequencing in persistently unsolved white matter disordersHelman, 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
- 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 spanielsAxelsson, 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
- VIPdb, a genetic variant impact predictor databaseHu, Zhiqiang, Yu, Changhua, Furutsuki, Mabel, Andreoletti, Gaia, Ly, Melissa, Hoskins, Roger, Adhikari, Aashish N., Brenner, Steven E. · 2019 · Human Mutation
- Acquisition of cross-azole tolerance and aneuploidy in
<i>Candida albicans</i>
strains evolved to posaconazoleKukurudz, Rebekah J, Chapel, Madison, Wonitowy, Quinn, Adamu Bukari, Abdul-Rahman, Sidney, Brooke, Sierhuis, Riley, Gerstein, Aleeza C · 2022 · G3
- Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed programCade, 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
- The dynamics of adaptation to stress from standing genetic variation and de novo mutationsAment-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
- The Impact of Modern Admixture on Archaic Human Ancestry in Human PopulationsWitt, Kelsey E, Funk, Alyssa, Añorve-Garibay, Valeria, Fang, Lesly Lopez, Huerta-Sánchez, Emilia · 2023 · Genome Biology and Evolution
- Exploring the Genomes of East African Indicine Cattle Breeds Reveals Signature of Selection for Tropical Environmental Adaptation TraitsTaye, Mengistie, Lee, Wonseok, Caetano-Anolles, Kelsey, Dessie, Tadelle, Cho, Seoae, Jong Oh, Sung, Lee, Hak-Kyo, Kim, Heebal · 2018 · Cogent Food & Agriculture
- Non-homologous end-joining-deficient filamentous fungal strains mitigate the impact of off-target mutations during the application of CRISPR/Cas9Garrigues, Sandra, Peng, Mao, Kun, Roland S., de Vries, Ronald P. · 2023 · mBio
- Whole Genome Sequencing Reveals Signals of Adaptive Admixture in Creole CattleBen-Jemaa, Slim, Adam, Gabriele, Boussaha, Mekki, Bardou, Philippe, Klopp, Christophe, Mandonnet, Nathalie, Naves, Michel · 2023 · Scientific Reports
- Population genomics of the muskox' resilience in the near absence of genetic variationPečnerová, 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
- A biallelic truncating <i>AEBP1</i> variant causes connective tissue disorder in two siblingsHebebrand, 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
- Genomic Insights into the Population History and Adaptive Traits of Latin American Criollo CattleWard, 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
- Whole-genome sequencing reveals the extent of heterozygosity in a preferentially self-fertilizing hermaphroditic vertebrateLins, Luana S.F., Trojahn, Shawn, Sockell, Alexandra, Yee, Muh-Ching, Tatarenkov, Andrey, Bustamante, Carlos D., Earley, Ryan L., Kelley, Joanna L. · 2018 · Genome
- Cancer-Associated Fibroblast Proteins as Potential Targets against Colorectal CancersShah, 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
- Rare genetic variants confer a high risk of ADHD and implicate neuronal biologyDemontis, 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
- Transcription factors instruct DNA methylation patterns in plant reproductive tissuesXu, Guanghui, Chen, Yuhan, Wang, Fuxi, Li, En, Law, Julie A. · 2025
- 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 GroupDiessner, 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
- Evolutionary rescue of phosphomannomutase deficiency in yeast models of human diseaseVignogna, Ryan C, Allocca, Mariateresa, Monticelli, Maria, Norris, Joy W, Steet, Richard, Perlstein, Ethan O, Andreotti, Giuseppina, Lang, Gregory I · 2022 · eLife
- Cross-ancestry comparison of aptamer and antibody protein measuresNicholas, 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
- Differential mitochondrial genome in patients with Rheumatoid ArthritisJaiswal, Kumar Sagar, Khanna, Shweta, Ghosh, Arup, Padhan, Prasanta, Raghav, Sunil Kumar, Gupta, Bhawna · 2021 · Autoimmunity
- Genomes of critically endangered saola are shaped by population structure and purgingGarcia-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
- Regional variation and adaptive evolution in Bifidobacterium pseudocatenulatum: Insights into genomic and functional diversity in human gutWu, Qiong, Li, Weicheng, Kwok, Lai-yu, Lv, Huimin, Sun, Jiaqi, Sun, Zhihong · 2024 · Food Research International
- Whole Genome Analysis of Echinocandin Non‐Susceptible Candida Glabrata Clinical Isolates: a Multi‐Center Study in ChinaLi, Yi, Hou, Xin, Li, Ruoyu, Liao, Kang, Ma, Ling, Wang, Xiaoming, Ji, Ping, Kong, Haishen, Xia, Yun, Ding, Hui et al. · 2023 · BMC Microbiology
- Identification of candidate genes for salt tolerance at seedling stage in rice using qtl-seq and chromosome segment substitution line-derived populationLeawtrakun, Jiraporn, Aesomnuk, Wanchana, Khanthong, Srisawat, Dumhai, Reajina, Songtoasesakul, Decha, Phosuwan, Sunadda, Nuanpirom, Jiratchaya, Charoensawan, Varodom, Siangliw, Jonaliza L., Ruanjaichon, Vinitchan et al. · 2024 · Agronomy
- Whole‐Genome Sequencing and Single‐Cell Transcriptomics Identify Human Leukocyte Antigen Loci and a
<i>COG5</i>
Variant in Aortic DissectionLin, 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
- A phenome-wide structural variant map from 467,152 UK Biobank genomesAtanur, 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