Nicola Whiffin, Eric Minikel, Roddy Walsh, Anne H O'Donnell-Luria, Konrad Karczewski, Alexander Y Ing, Paul J R Barton, Birgit Funke, Stuart A Cook, Daniel MacArthur, James S Ware. Genet Med 2017
Times Cited: 205
Times Cited: 205
Times Cited
Times Co-cited
Similarity
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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Analysis of protein-coding genetic variation in 60,706 humans.
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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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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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Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.
Sean V Tavtigian, Marc S Greenblatt, Steven M Harrison, Robert L Nussbaum, Snehit A Prabhu, Kenneth M Boucher, Leslie G Biesecker. Genet Med 2018
Sean V Tavtigian, Marc S Greenblatt, Steven M Harrison, Robert L Nussbaum, Snehit A Prabhu, Kenneth M Boucher, Leslie G Biesecker. Genet Med 2018
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Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
Melissa A Kelly, Colleen Caleshu, Ana Morales, Jillian Buchan, Zena Wolf, Steven M Harrison, Stuart Cook, Mitchell W Dillon, John Garcia, Eden Haverfield,[...]. Genet Med 2018
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ClinVar: improving access to variant interpretations and supporting evidence.
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Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.
Ahmad N Abou Tayoun, Tina Pesaran, Marina T DiStefano, Andrea Oza, Heidi L Rehm, Leslie G Biesecker, Steven M Harrison. Hum Mutat 2018
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A method and server for predicting damaging missense mutations.
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Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
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ClinGen--the Clinical Genome Resource.
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Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.
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CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation.
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Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.
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Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
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Predicting Splicing from Primary Sequence with Deep Learning.
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Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
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Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
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HGVS Recommendations for the Description of Sequence Variants: 2016 Update.
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The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.
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A general framework for estimating the relative pathogenicity of human genetic variants.
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MutationTaster2: mutation prediction for the deep-sequencing age.
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Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.
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Identification of Misclassified ClinVar Variants via Disease Population Prevalence.
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Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.
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Guidelines for investigating causality of sequence variants in human disease.
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Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants.
Gail P Jarvik, Brian L Browning. Am J Hum Genet 2016
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Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
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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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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
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An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome.
Arnon Adler, Valeria Novelli, Ahmad S Amin, Emanuela Abiusi, Melanie Care, Eline A Nannenberg, Harriet Feilotter, Simona Amenta, Daniela Mazza, Hennie Bikker,[...]. Circulation 2020
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8
Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome.
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From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline.
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Geraldine A Van der Auwera, Mauricio O Carneiro, Christopher Hartl, Ryan Poplin, Guillermo Del Angel, Ami Levy-Moonshine, Tadeusz Jordan, Khalid Shakir, David Roazen, Joel Thibault,[...]. Curr Protoc Bioinformatics 2013
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Identifying a high fraction of the human genome to be under selective constraint using GERP++.
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The ACMG/AMP reputable source criteria for the interpretation of sequence variants.
Leslie G Biesecker, Steven M Harrison. Genet Med 2018
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VarSome: the human genomic variant search engine.
Christos Kopanos, Vasilis Tsiolkas, Alexandros Kouris, Charles E Chapple, Monica Albarca Aguilera, Richard Meyer, Andreas Massouras. Bioinformatics 2019
Christos Kopanos, Vasilis Tsiolkas, Alexandros Kouris, Charles E Chapple, Monica Albarca Aguilera, Richard Meyer, Andreas Massouras. Bioinformatics 2019
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Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe).
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A global reference for human genetic variation.
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The Ensembl Variant Effect Predictor.
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Updated recommendation for the benign stand-alone ACMG/AMP criterion.
Rajarshi Ghosh, Steven M Harrison, Heidi L Rehm, Sharon E Plon, Leslie G Biesecker. Hum Mutat 2018
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A framework for variation discovery and genotyping using next-generation DNA sequencing data.
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Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.
Angharad M Roberts, James S Ware, Daniel S Herman, Sebastian Schafer, John Baksi, Alexander G Bick, Rachel J Buchan, Roddy Walsh, Shibu John, Samuel Wilkinson,[...]. Sci Transl Med 2015
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Accurate classification of BRCA1 variants with saturation genome editing.
Gregory M Findlay, Riza M Daza, Beth Martin, Melissa D Zhang, Anh P Leith, Molly Gasperini, Joseph D Janizek, Xingfan Huang, Lea M Starita, Jay Shendure. Nature 2018
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Fast and accurate short read alignment with Burrows-Wheeler transform.
Heng Li, Richard Durbin. Bioinformatics 2009
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Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy.
Roddy Walsh, Francesco Mazzarotto, Nicola Whiffin, Rachel Buchan, William Midwinter, Alicja Wilk, Nicholas Li, Leanne Felkin, Nathan Ingold, Risha Govind,[...]. Genome Med 2019
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Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.
Roddy Walsh, Rachel Buchan, Alicja Wilk, Shibu John, Leanne E Felkin, Kate L Thomson, Tang Hak Chiaw, Calvin Chin Woon Loong, Chee Jian Pua, Claire Raphael,[...]. Eur Heart J 2017
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Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
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Prevalence of the congenital long-QT syndrome.
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5
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.