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Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies.

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Title: Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies.
Authors: Iancu IF; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Avila-Fernandez A; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Arteche A; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain., Trujillo-Tiebas MJ; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Riveiro-Alvarez R; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Almoguera B; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Martin-Merida I; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Del Pozo-Valero M; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Perea-Romero I; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Corton M; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Minguez P; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain. pablo.minguez@quironsalud.es.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain. pablo.minguez@quironsalud.es., Ayuso C; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain. cayuso@fjd.es.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain. cayuso@fjd.es.
Source: NPJ genomic medicine [NPJ Genom Med] 2021 Feb 23; Vol. 6 (1), pp. 18. Date of Electronic Publication: 2021 Feb 23.
Publication Type: Journal Article
Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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ISSN:2056-7944
DOI:10.1038/s41525-021-00182-z