Yongwook Choi, Agnes P Chan. Bioinformatics 2015
Times Cited: 1242
Times Cited: 1242
Times Cited
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A method and server for predicting damaging missense mutations.
Ivan A Adzhubei, Steffen Schmidt, Leonid Peshkin, Vasily E Ramensky, Anna Gerasimova, Peer Bork, Alexey S Kondrashov, Shamil R Sunyaev. Nat Methods 2010
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SIFT web server: predicting effects of amino acid substitutions on proteins.
Ngak-Leng Sim, Prateek Kumar, Jing Hu, Steven Henikoff, Georg Schneider, Pauline C Ng. Nucleic Acids Res 2012
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Predicting functional effect of human missense mutations using PolyPhen-2.
Ivan Adzhubei, Daniel M Jordan, Shamil R Sunyaev. Curr Protoc Hum Genet 2013
Ivan Adzhubei, Daniel M Jordan, Shamil R Sunyaev. Curr Protoc Hum Genet 2013
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SIFT: Predicting amino acid changes that affect protein function.
Pauline C Ng, Steven Henikoff. Nucleic Acids Res 2003
Pauline C Ng, Steven Henikoff. Nucleic Acids Res 2003
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
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I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure.
Emidio Capriotti, Piero Fariselli, Rita Casadio. Nucleic Acids Res 2005
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MutationTaster evaluates disease-causing potential of sequence alterations.
Jana Marie Schwarz, Christian Rödelsperger, Markus Schuelke, Dominik Seelow. Nat Methods 2010
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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm.
Prateek Kumar, Steven Henikoff, Pauline C Ng. Nat Protoc 2009
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MutationTaster2: mutation prediction for the deep-sequencing age.
Jana Marie Schwarz, David N Cooper, Markus Schuelke, Dominik Seelow. Nat Methods 2014
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A general framework for estimating the relative pathogenicity of human genetic variants.
Martin Kircher, Daniela M Witten, Preti Jain, Brian J O'Roak, Gregory M Cooper, Jay Shendure. Nat Genet 2014
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Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information.
E Capriotti, R Calabrese, R Casadio. Bioinformatics 2006
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CADD: predicting the deleteriousness of variants throughout the human genome.
Philipp Rentzsch, Daniela Witten, Gregory M Cooper, Jay Shendure, Martin Kircher. Nucleic Acids Res 2019
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WS-SNPs&GO: a web server for predicting the deleterious effect of human protein variants using functional annotation.
Emidio Capriotti, Remo Calabrese, Piero Fariselli, Pier Luigi Martelli, Russ B Altman, Rita Casadio. BMC Genomics 2013
Emidio Capriotti, Remo Calabrese, Piero Fariselli, Pier Luigi Martelli, Russ B Altman, Rita Casadio. BMC Genomics 2013
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Predicting the functional impact of protein mutations: application to cancer genomics.
Boris Reva, Yevgeniy Antipin, Chris Sander. Nucleic Acids Res 2011
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Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces.
Hanka Venselaar, Tim A H Te Beek, Remko K P Kuipers, Maarten L Hekkelman, Gert Vriend. BMC Bioinformatics 2010
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SIFT missense predictions for genomes.
Robert Vaser, Swarnaseetha Adusumalli, Sim Ngak Leng, Mile Sikic, Pauline C Ng. Nat Protoc 2016
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ConSurf 2016: an improved methodology to estimate and visualize evolutionary conservation in macromolecules.
Haim Ashkenazy, Shiran Abadi, Eric Martz, Ofer Chay, Itay Mayrose, Tal Pupko, Nir Ben-Tal. Nucleic Acids Res 2016
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Fast and accurate short read alignment with Burrows-Wheeler transform.
Heng Li, Richard Durbin. Bioinformatics 2009
Heng Li, Richard Durbin. Bioinformatics 2009
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The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.
Aaron McKenna, Matthew Hanna, Eric Banks, Andrey Sivachenko, Kristian Cibulskis, Andrew Kernytsky, Kiran Garimella, David Altshuler, Stacey Gabriel, Mark Daly,[...]. Genome Res 2010
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Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models.
Hashem A Shihab, Julian Gough, David N Cooper, Peter D Stenson, Gary L A Barker, Keith J Edwards, Ian N M Day, Tom R Gaunt. Hum Mutat 2013
Hashem A Shihab, Julian Gough, David N Cooper, Peter D Stenson, Gary L A Barker, Keith J Edwards, Ian N M Day, Tom R Gaunt. Hum Mutat 2013
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The mutational constraint spectrum quantified from variation in 141,456 humans.
Konrad J Karczewski, Laurent C Francioli, Grace Tiao, Beryl B Cummings, Jessica Alföldi, Qingbo Wang, Ryan L Collins, Kristen M Laricchia, Andrea Ganna, Daniel P Birnbaum,[...]. Nature 2020
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Prediction of protein stability changes for single-site mutations using support vector machines.
Jianlin Cheng, Arlo Randall, Pierre Baldi. Proteins 2006
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A global reference for human genetic variation.
Adam Auton, Lisa D Brooks, Richard M Durbin, Erik P Garrison, Hyun Min Kang, Jan O Korbel, Jonathan L Marchini, Shane McCarthy, Gil A McVean, Gonçalo R Abecasis. Nature 2015
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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
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From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline.
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Better prediction of functional effects for sequence variants.
Maximilian Hecht, Yana Bromberg, Burkhard Rost. BMC Genomics 2015
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PredictSNP: robust and accurate consensus classifier for prediction of disease-related mutations.
Jaroslav Bendl, Jan Stourac, Ondrej Salanda, Antonin Pavelka, Eric D Wieben, Jaroslav Zendulka, Jan Brezovsky, Jiri Damborsky. PLoS Comput Biol 2014
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PANTHER-PSEP: predicting disease-causing genetic variants using position-specific evolutionary preservation.
Haiming Tang, Paul D Thomas. Bioinformatics 2016
Haiming Tang, Paul D Thomas. Bioinformatics 2016
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Predicting the functional effect of amino acid substitutions and indels.
Yongwook Choi, Gregory E Sims, Sean Murphy, Jason R Miller, Agnes P Chan. PLoS One 2012
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REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.
Nilah M Ioannidis, Joseph H Rothstein, Vikas Pejaver, Sumit Middha, Shannon K McDonnell, Saurabh Baheti, Anthony Musolf, Qing Li, Emily Holzinger, Danielle Karyadi,[...]. Am J Hum Genet 2016
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DANN: a deep learning approach for annotating the pathogenicity of genetic variants.
Daniel Quang, Yifei Chen, Xiaohui Xie. Bioinformatics 2015
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Analysis of protein-coding genetic variation in 60,706 humans.
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Inferring the molecular and phenotypic impact of amino acid variants with MutPred2.
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ClinVar: improving access to variant interpretations and supporting evidence.
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Human non-synonymous SNPs: server and survey.
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ClinVar: public archive of interpretations of clinically relevant variants.
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M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity.
Karthik A Jagadeesh, Aaron M Wenger, Mark J Berger, Harendra Guturu, Peter D Stenson, David N Cooper, Jonathan A Bernstein, Gill Bejerano. Nat Genet 2016
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UCSF Chimera--a visualization system for exploratory research and analysis.
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PhD-SNPg: a webserver and lightweight tool for scoring single nucleotide variants.
Emidio Capriotti, Piero Fariselli. Nucleic Acids Res 2017
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mCSM: predicting the effects of mutations in proteins using graph-based signatures.
Douglas E V Pires, David B Ascher, Tom L Blundell. Bioinformatics 2014
Douglas E V Pires, David B Ascher, Tom L Blundell. Bioinformatics 2014
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SDM--a server for predicting effects of mutations on protein stability and malfunction.
Catherine L Worth, Robert Preissner, Tom L Blundell. Nucleic Acids Res 2011
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The I-TASSER Suite: protein structure and function prediction.
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DynaMut: predicting the impact of mutations on protein conformation, flexibility and stability.
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The Sequence Alignment/Map format and SAMtools.
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Second-generation PLINK: rising to the challenge of larger and richer datasets.
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Identifying Mendelian disease genes with the variant effect scoring tool.
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Identifying a high fraction of the human genome to be under selective constraint using GERP++.
Eugene V Davydov, David L Goode, Marina Sirota, Gregory M Cooper, Arend Sidow, Serafim Batzoglou. PLoS Comput Biol 2010
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Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies.
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IQ-TREE: a fast and effective stochastic algorithm for estimating maximum-likelihood phylogenies.
Lam-Tung Nguyen, Heiko A Schmidt, Arndt von Haeseler, Bui Quang Minh. Mol Biol Evol 2015
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Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.