1 resultado para merging
em Instituto Nacional de Saúde de Portugal
Filtro por publicador
- Repository Napier (1)
- Aberdeen University (1)
- Acceda, el repositorio institucional de la Universidad de Las Palmas de Gran Canaria. España (1)
- Adam Mickiewicz University Repository (1)
- AMS Tesi di Dottorato - Alm@DL - Università di Bologna (12)
- AMS Tesi di Laurea - Alm@DL - Università di Bologna (7)
- Aquatic Commons (4)
- ArchiMeD - Elektronische Publikationen der Universität Mainz - Alemanha (3)
- Archimer: Archive de l'Institut francais de recherche pour l'exploitation de la mer (2)
- Archive of European Integration (4)
- Archivo Digital para la Docencia y la Investigación - Repositorio Institucional de la Universidad del País Vasco (4)
- Aston University Research Archive (15)
- Biblioteca de Teses e Dissertações da USP (2)
- Biblioteca Digital da Produção Intelectual da Universidade de São Paulo (3)
- Biblioteca Digital da Produção Intelectual da Universidade de São Paulo (BDPI/USP) (3)
- Biblioteca Digital de la Universidad Católica Argentina (1)
- Biblioteca Digital de Teses e Dissertações Eletrônicas da UERJ (2)
- Bioline International (1)
- BORIS: Bern Open Repository and Information System - Berna - Suiça (23)
- Boston University Digital Common (9)
- Brock University, Canada (3)
- Bulgarian Digital Mathematics Library at IMI-BAS (3)
- CaltechTHESIS (4)
- Cambridge University Engineering Department Publications Database (9)
- CentAUR: Central Archive University of Reading - UK (33)
- Chinese Academy of Sciences Institutional Repositories Grid Portal (22)
- Comissão Econômica para a América Latina e o Caribe (CEPAL) (1)
- CORA - Cork Open Research Archive - University College Cork - Ireland (4)
- Corvinus Research Archive - The institutional repository for the Corvinus University of Budapest (2)
- CUNY Academic Works (2)
- Dalarna University College Electronic Archive (4)
- Deakin Research Online - Australia (46)
- Department of Computer Science E-Repository - King's College London, Strand, London (7)
- DI-fusion - The institutional repository of Université Libre de Bruxelles (1)
- Digital Commons - Michigan Tech (1)
- Digital Commons @ DU | University of Denver Research (1)
- Digital Commons at Florida International University (6)
- Digital Peer Publishing (3)
- DigitalCommons - The University of Maine Research (2)
- DigitalCommons@The Texas Medical Center (2)
- DRUM (Digital Repository at the University of Maryland) (3)
- Duke University (4)
- eResearch Archive - Queensland Department of Agriculture; Fisheries and Forestry (1)
- Glasgow Theses Service (1)
- Greenwich Academic Literature Archive - UK (1)
- Harvard University (1)
- Helda - Digital Repository of University of Helsinki (8)
- Illinois Digital Environment for Access to Learning and Scholarship Repository (2)
- Indian Institute of Science - Bangalore - Índia (27)
- Institutional Repository of Leibniz University Hannover (1)
- Instituto Nacional de Saúde de Portugal (1)
- Instituto Politécnico de Castelo Branco - Portugal (1)
- Instituto Politécnico do Porto, Portugal (4)
- Massachusetts Institute of Technology (3)
- Memoria Académica - FaHCE, UNLP - Argentina (6)
- National Center for Biotechnology Information - NCBI (1)
- Open University Netherlands (1)
- Plymouth Marine Science Electronic Archive (PlyMSEA) (4)
- Portal de Revistas Científicas Complutenses - Espanha (3)
- Publishing Network for Geoscientific & Environmental Data (10)
- QUB Research Portal - Research Directory and Institutional Repository for Queen's University Belfast (53)
- Queensland University of Technology - ePrints Archive (49)
- RDBU - Repositório Digital da Biblioteca da Unisinos (1)
- Repositorio Académico de la Universidad Nacional de Costa Rica (1)
- Repositório Científico do Instituto Politécnico de Lisboa - Portugal (3)
- Repositório digital da Fundação Getúlio Vargas - FGV (8)
- Repositório Digital da UNIVERSIDADE DA MADEIRA - Portugal (2)
- Repositório Institucional da Universidade de Aveiro - Portugal (2)
- Repositório Institucional da Universidade de Brasília (2)
- Repositório Institucional da Universidade Estadual de São Paulo - UNESP (1)
- Repositório Institucional UNESP - Universidade Estadual Paulista "Julio de Mesquita Filho" (27)
- Research Open Access Repository of the University of East London. (1)
- SAPIENTIA - Universidade do Algarve - Portugal (1)
- Savoirs UdeS : plateforme de diffusion de la production intellectuelle de l’Université de Sherbrooke - Canada (1)
- Scientific Open-access Literature Archive and Repository (1)
- Universidad de Alicante (2)
- Universidad del Rosario, Colombia (2)
- Universidad Politécnica de Madrid (24)
- Universidade Complutense de Madrid (6)
- Universidade de Lisboa - Repositório Aberto (3)
- Universidade Federal do Pará (2)
- Universidade Federal do Rio Grande do Norte (UFRN) (8)
- Universidade Técnica de Lisboa (1)
- Universita di Parma (1)
- Universitat de Girona, Spain (6)
- Universitätsbibliothek Kassel, Universität Kassel, Germany (3)
- Université de Lausanne, Switzerland (1)
- Université de Montréal (1)
- Université de Montréal, Canada (14)
- University of Connecticut - USA (1)
- University of Michigan (14)
- University of Queensland eSpace - Australia (9)
- University of Southampton, United Kingdom (1)
- University of Washington (2)
- WestminsterResearch - UK (2)
- Worcester Research and Publications - Worcester Research and Publications - UK (1)
Resumo:
Objective: In Southern European countries up to one-third of the patients with hereditary hemochromatosis (HH) do not present the common HFE risk genotype. In order to investigate the molecular basis of these cases we have designed a gene panel for rapid and simultaneous analysis of 6 HH-related genes (HFE, TFR2, HJV, HAMP, SLC40A1 and FTL) by next-generation sequencing (NGS). Materials and Methods: Eighty-eight iron overload Portuguese patients, negative for the common HFE mutations, were analysed. A TruSeq Custom Amplicon kit (TSCA, by Illumina) was designed in order to generate 97 amplicons covering exons, intron/exon junctions and UTRs of the mentioned genes with a cumulative target sequence of 12115bp. Amplicons were sequenced in the MiSeq instrument (IIlumina) using 250bp paired-end reads. Sequences were aligned against human genome reference hg19 using alignment and variant caller algorithms in the MiSeq reporter software. Novel variants were validated by Sanger sequencing and their pathogenic significance were assessed by in silico studies. Results: We found a total of 55 different genetic variants. These include novel pathogenic missense and splicing variants (in HFE and TFR2), a very rare variant in IRE of FTL, a variant that originates a novel translation initiation codon in the HAMP gene, among others. Conclusion: The merging of TSCA methodology and NGS technology appears to be an appropriate tool for simultaneous and fast analysis of HH-related genes in a large number of samples. However, establishing the clinical relevance of NGS-detected variants for HH development remains a hard-working task, requiring further functional studies.