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Departamento de Medicina, Faculdade de Ciencias Medicas da Santa Casa de Sao Paulo, Sao Paulo, Brasil
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Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil
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Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil
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Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil
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SHOX defects ( 27 ). In-house bioinformatic analysis was performed as previously reported ( 12 ). The sequences were aligned to the human reference genome sequence (GRCh37/hg19). Copy number variation (CNVs) analysis was also performed for all patients
Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
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Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
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West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, United Kingdom
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CHH), (iii) the percentage of patients with positive NGS reports (i.e. cases with at least one rare non-synonymous variant in the candidate genes), (iv) quality criteria used for reporting, including bioinformatic support (i.e. reports including class
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Universidade de São Paulo, Zebrafish Facility, São Paulo, São Paulo, Brazil
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, Illumina’s DRAGEN copy number variation pipeline was used, which detects alteration from three contiguous exons ( 11 ). CDH2 variant effects on splicing were evaluated by bioinformatic analysis and cDNA amplification The web site https
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Department of Endocrinology at Sahlgrenska University Hospital, Gothenburg, Sweden
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analysis of specific genes, either based on a targeted enrichment or a targeted bioinformatics analysis of whole exome/genome data. The choice of genes might be leaned on https://panelapp.genomicsengland.co.uk/panels . 2 Decision on first-line test
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M Meyer R & Massouras A . VarSome: the human genomic variant search engine . Bioinformatics 2019 35 1978 – 1980 . ( https://doi.org/10.1093/bioinformatics/bty897 ) 26 Jarvik GP & Browning BL . Consideration of cosegregation in the