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Times Cited: 136
Times Cited: 136
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.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
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Analysis of protein-coding genetic variation in 60,706 humans.
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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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Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
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Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
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Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases.
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Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
Linyan Meng, Mohan Pammi, Anirudh Saronwala, Pilar Magoulas, Andrew Ray Ghazi, Francesco Vetrini, Jing Zhang, Weimin He, Avinash V Dharmadhikari, Chunjing Qu,[...]. JAMA Pediatr 2017
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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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GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.
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Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization.
Lauge Farnaes, Amber Hildreth, Nathaly M Sweeney, Michelle M Clark, Shimul Chowdhury, Shareef Nahas, Julie A Cakici, Wendy Benson, Robert H Kaplan, Richard Kronick,[...]. NPJ Genom Med 2018
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Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
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The 100 000 Genomes Project: bringing whole genome sequencing to the NHS.
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The mutational constraint spectrum quantified from variation in 141,456 humans.
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A general framework for estimating the relative pathogenicity of human genetic variants.
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Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement.
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Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.
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ClinVar: improving access to variant interpretations and supporting evidence.
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Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
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Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database.
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A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
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A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.
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The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
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The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study.
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Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
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Sarah E Soden, Carol J Saunders, Laurel K Willig, Emily G Farrow, Laurie D Smith, Josh E Petrikin, Jean-Baptiste LePichon, Neil A Miller, Isabelle Thiffault, Darrell L Dinwiddie,[...]. Sci Transl Med 2014
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Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
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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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Clinical application of whole-exome sequencing across clinical indications.
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A systematic survey of loss-of-function variants in human protein-coding genes.
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Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.
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ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
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Exome Sequencing and the Management of Neurometabolic Disorders.
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Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
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Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
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From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline.
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Genetic diagnosis of Mendelian disorders via RNA sequencing.
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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.