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Monovar: single-nucleotide variant detection in single cells
Author / Creator:Zafar, Hamim ; Wang, Yong ; Nakhleh, Luay ; Navin, Nicholas ; Chen, Ken
Publisher:New York: Nature Publishing Group US
Journal title:Nature methods, 2016-06, Vol.13 (6), p.505-507
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A rare single nucleotide variant in Pm5e confers powdery mildew resistance in common wheat
Author / Creator:Xie, Jingzhong ; Guo, Guanghao ; Wang, Yong ; Hu, Tiezhu ; Wang, Lili ; Li, Jingting ; Qiu, Dan ; Li, Yahui ; Wu, Qiuhong ; Lu, Ping ; Chen, Yongxing ; Dong, Lingli ; Li, Miaomiao ; Zhang, Huaizhi ; Zhang, Panpan ; Zhu, Keyu ; Li, Beibei ; Deal, Karin R. ; Huo, Naxin ; Zhang, Yan ; Luo, Ming-Cheng ; Liu, Sanzhen ; Gu, Yong Qiang ; Li, Hongjie ; Liu, Zhiyong
Publisher:England: Wiley
Journal title:The New phytologist, 2020-11, Vol.228 (3), p.1011-1026
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Control-independent mosaic single nucleotide variant detection with DeepMosaic
Author / Creator:Yang, Xiaoxu ; Xu, Xin ; Breuss, Martin W. ; Antaki, Danny ; Ball, Laurel L. ; Chung, Changuk ; Shen, Jiawei ; Li, Chen ; George, Renee D. ; Wang, Yifan ; Bae, Taejeong ; Cheng, Yuhe ; Abyzov, Alexej ; Wei, Liping ; Alexandrov, Ludmil B. ; Sebat, Jonathan L. ; Gleeson, Joseph G.
Publisher:New York: Nature Publishing Group US
Journal title:Nature biotechnology, 2023-06, Vol.41 (6), p.870-877
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Combining tumor genome simulation with crowdsourcing to benchmark somatic single-nucleotide-variant detection
Author / Creator:Ewing, Adam D ; Houlahan, Kathleen E ; Hu, Yin ; Ellrott, Kyle ; Caloian, Cristian ; Yamaguchi, Takafumi N ; Bare, J Christopher ; P'ng, Christine ; Waggott, Daryl ; Sabelnykova, Veronica Y ; Kellen, Michael R ; Norman, Thea C ; Haussler, David ; Friend, Stephen H ; Stolovitzky, Gustavo ; Margolin, Adam A ; Stuart, Joshua M ; Boutros, Paul C
Publisher:New York: Nature Publishing Group US
Journal title:Nature methods, 2015-07, Vol.12 (7), p.623-630
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Systematic comparative analysis of single-nucleotide variant detection methods from single-cell RNA sequencing data
Author / Creator:Liu, Fenglin ; Zhang, Yuanyuan ; Zhang, Lei ; Li, Ziyi ; Fang, Qiao ; Gao, Ranran ; Zhang, Zemin
Publisher:England: BioMed Central Ltd
Journal title:Genome Biology, 2019-11, Vol.20 (1), p.242-242, Article 242
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Single-nucleotide variant calling in single-cell sequencing data with Monopogen
Author / Creator:Dou, Jinzhuang ; Tan, Yukun ; Kock, Kian Hong ; Wang, Jun ; Cheng, Xuesen ; Tan, Le Min ; Han, Kyung Yeon ; Hon, Chung-Chau ; Park, Woong-Yang ; Shin, Jay W. ; Jin, Haijing ; Wang, Yujia ; Chen, Han ; Ding, Li ; Prabhakar, Shyam ; Navin, Nicholas ; Chen, Rui ; Chen, Ken
Publisher:New York: Nature Publishing Group US
Journal title:Nature biotechnology, 2024-05, Vol.42 (5), p.803-812
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The Relation between Resistin (−420C/G) Single Nucleotide Variant, Resistin Serum Concentration, Carbohydrate, and Lipid Parameters and Fried Food Taste Preference in Patients with Hypertriglyceridemi...
Author / Creator:Miller-Kasprzak, Ewa ; Musialik, Katarzyna ; Kręgielska-Narożna, Matylda ; Szulińska, Monika ; Bogdański, Paweł
Publisher:Switzerland: MDPI AG
Journal title:Nutrients, 2022-12, Vol.14 (23), p.5092
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Using intrahost single nucleotide variant data to predict SARS-CoV-2 detection cycle threshold values
Author / Creator:Duesterwald, Lea ; Nguyen, Marcus ; Christensen, Paul ; Long, S. Wesley ; Olsen, Randall J. ; Musser, James M. ; Davis, James J.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2024-10, Vol.19 (10), p.e0312686
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Quantifying single nucleotide variant detection sensitivity in exome sequencing
Author / Creator:Meynert, Alison M ; Bicknell, Louise S ; Hurles, Matthew E ; Jackson, Andrew P ; Taylor, Martin S
Publisher:England: BioMed Central Ltd
Journal title:BMC bioinformatics, 2013-06, Vol.14 (1), p.195-195, Article 195
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A Single Nucleotide Variant in the PPARγ-homolog Eip75B Affects Fecundity in Drosophila
Author / Creator:Hoedjes, Katja M ; Kostic, Hristina ; Flatt, Thomas ; Keller, Laurent
Publisher:US: Oxford University Press
Journal title:Molecular biology and evolution, 2023-02, Vol.40 (2)
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MLH1 single-nucleotide variant in circulating tumor DNA predicts overall survival of patients with hepatocellular carcinoma
Author / Creator:Kim, Soon Sun ; Eun, Jung Woo ; Choi, Ji-Hye ; Woo, Hyun Goo ; Cho, Hyo Jung ; Ahn, Hye Ri ; Suh, Chul Won ; Baek, Geum Ok ; Cho, Sung Won ; Cheong, Jae Youn
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2020-10, Vol.10 (1), p.17862-17862, Article 17862
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A gain-of-function single nucleotide variant creates a new promoter which acts as an orientation-dependent enhancer-blocker
Author / Creator:Bozhilov, Yavor K. ; Downes, Damien J. ; Telenius, Jelena ; Marieke Oudelaar, A. ; Olivier, Emmanuel N. ; Mountford, Joanne C. ; Hughes, Jim R. ; Gibbons, Richard J. ; Higgs, Douglas R.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2021-06, Vol.12 (1), p.3806-3806, Article 3806
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VIPPID: a gene-specific single nucleotide variant pathogenicity prediction tool for primary immunodeficiency diseases
Author / Creator:Fang, Mingyan ; Su, Zheng ; Abolhassani, Hassan ; Itan, Yuval ; Jin, Xin ; Hammarström, Lennart
Publisher:England: Oxford University Press
Journal title:Briefings in bioinformatics, 2022-09, Vol.23 (5)
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Empirical Bayes single nucleotide variant-calling for next-generation sequencing data
Author / Creator:Karimnezhad, Ali ; Perkins, Theodore J.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-01, Vol.14 (1), p.1550-1550, Article 1550
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A common single-nucleotide variant in T is strongly associated with chordoma
Author / Creator:Pillay, Nischalan ; Plagnol, Vincent ; Tarpey, Patrick S ; Lobo, Samira B ; Presneau, Nadège ; Szuhai, Karoly ; Halai, Dina ; Berisha, Fitim ; Cannon, Stephen R ; Mead, Simon ; Kasperaviciute, Dalia ; Palmen, Jutta ; Talmud, Philippa J ; Kindblom, Lars-Gunnar ; Amary, M Fernanda ; Tirabosco, Roberto ; Flanagan, Adrienne M
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2012-11, Vol.44 (11), p.1185-1187
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The Novel Association of a Single Nucleotide Variant in the COL3A1 Gene with Diffuse Coronary Aneurysms
Author / Creator:Norgan Radler, Charlene ; Ku, Kevin ; Hodge, Alison ; Wang, Tianci ; Moore, Peyton ; Sathyamoorthy, Mohanakrishnan
Publisher:Switzerland: MDPI
Journal title:Current issues in molecular biology, 2025-01, Vol.47 (2), p.82
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A Single Nucleotide Variant in the PPAR[gamma]-homolog Eip75B Affects Fecundity in Drosophila
Author / Creator:Hoedjes, Katja M ; Kostic, Hristina ; Flatt, Thomas ; Keller, Laurent
Publisher:Oxford University Press
Journal title:Molecular biology and evolution, 2023-02, Vol.40 (2)
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Sequencing Analysis of Plasma Epstein-Barr Virus DNA Reveals Nasopharyngeal Carcinoma-Associated Single Nucleotide Variant Profiles
Author / Creator:Lam, W K Jacky ; Ji, Lu ; Tse, O Y Olivia ; Cheng, Suk Hang ; Jiang, Peiyong ; Lee, P H Patrick ; Lin, S Vivien ; Hui, Edwin P ; Ma, Brigette B Y ; Chan, Anthony T C ; Chan, K C Allen ; Chiu, Rossa W K ; Lo, Y M Dennis
Publisher:England: Oxford University Press
Journal title:Clinical chemistry (Baltimore, Md.), 2020-04, Vol.66 (4), p.598-605
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Improving the Accuracy of Single-Nucleotide Variant Diagnosis Using On–Off Discriminating Primers
Author / Creator:Shin, Juny ; Jung, Cheulhee
Publisher:Switzerland: MDPI AG
Journal title:Biosensors (Basel), 2023-03, Vol.13 (3), p.380
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A comparative study of single nucleotide variant detection performance using three massively parallel sequencing methods
Author / Creator:Trudsø, Linea Christine ; Andersen, Jeppe Dyrberg ; Jacobsen, Stine Bøttcher ; Christiansen, Sofie Lindgren ; Congost-Teixidor, Clàudia ; Kampmann, Marie-Louise ; Morling, Niels
Publisher:San Francisco, CA USA: Public Library of Science
Journal title:PloS one, 2020-09, Vol.15 (9), p.e0239850-e0239850
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Monovar: single-nucleotide variant detection in single cells

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A rare single nucleotide variant in Pm5e confers powdery mildew resistance in common wheat

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Control-independent mosaic single nucleotide variant detection with DeepMosaic

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Combining tumor genome simulation with crowdsourcing to benchmark somatic single-nucleotide-variant detection

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Systematic comparative analysis of single-nucleotide variant detection methods from single-cell RNA sequencing data

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Single-nucleotide variant calling in single-cell sequencing data with Monopogen

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The Relation between Resistin (−420C/G) Single Nucleotide Variant, Resistin Serum Concentration, Carbohydrate, and Lipid Parameters and Fried Food Taste Preference in Patients with Hypertriglyceridemi...

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Using intrahost single nucleotide variant data to predict SARS-CoV-2 detection cycle threshold values

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Quantifying single nucleotide variant detection sensitivity in exome sequencing

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A Single Nucleotide Variant in the PPARγ-homolog Eip75B Affects Fecundity in Drosophila

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MLH1 single-nucleotide variant in circulating tumor DNA predicts overall survival of patients with hepatocellular carcinoma

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A gain-of-function single nucleotide variant creates a new promoter which acts as an orientation-dependent enhancer-blocker

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VIPPID: a gene-specific single nucleotide variant pathogenicity prediction tool for primary immunodeficiency diseases

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Empirical Bayes single nucleotide variant-calling for next-generation sequencing data

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A common single-nucleotide variant in T is strongly associated with chordoma

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The Novel Association of a Single Nucleotide Variant in the COL3A1 Gene with Diffuse Coronary Aneurysms

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A Single Nucleotide Variant in the PPAR[gamma]-homolog Eip75B Affects Fecundity in Drosophila

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Sequencing Analysis of Plasma Epstein-Barr Virus DNA Reveals Nasopharyngeal Carcinoma-Associated Single Nucleotide Variant Profiles

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Improving the Accuracy of Single-Nucleotide Variant Diagnosis Using On–Off Discriminating Primers

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A comparative study of single nucleotide variant detection performance using three massively parallel sequencing methods

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