An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.

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作者： Valentina,Cipriani ^[1] ; Nikolas,Pontikos ^[2] ; Gavin,Arno ^[3] ; Panagiotis I,Sergouniotis ^[4] ; Eva,Lenassi ^[2] ; Penpitcha,Thawong ^[3] ; Daniel,Danis ^[2] ; Michel,Michaelides ^[3] ; Andrew R,Webster ^[5] ; Anthony T,Moore ^[6] ; Peter N,Robinson ^[6] ; Julius O B,Jacobsen ^[7] ; Damian,Smedley ^[8]

作者单位： William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK. ^[1] UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK. ^[2] Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK. ^[3] UCL Genetics Institute, University College London, London WC1E 6AA, UK. ^[4] North East Thames Regional Genetics Laboratory, Great Ormond Street Hospital NHS Trust, London WC1N 3BH, UK. ^[5] Manchester Royal Eye Hospital & University of Manchester, Manchester M13 9WL, UK. ^[6] Department of Medical Sciences, Medical Genetics Section, National Institute of Health, Ministry of Public Health, Nonthaburi 11000, Thailand. ^[7] The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA. ^[8] Ophthalmology Department, UCSF School of Medicine, San Francisco, CA 94143-0644, USA. ^[9]

关键词 bioinformatics human phenotype ontology inherited retinal disease phenotypic similarity rare disease variant prioritization whole-exome sequencing whole-genome sequencing