Encontrados 4 documentos, a visualizar página 1 de 1
Development and testing of microsatellite loci for the study of population gene...
Velez, Rita; De Meeûs, Thierry; Beati, Lorenza; Younsi, Hend; Zhioua, Elyes; Antunes, Sandra; Domingos, Ana; Ataíde Sampaio, Daniel; Carpinteiro, DinaIxodes ricinus is an important vector of several human and veterinary infectious agents. Its wide geographical distribution and permissive feeding behaviour have prompted earlier studies on its population genetics. Results were, nevertheless, not conclusive. Furthermore, no research has fully focused on the south-western distribution range of I. ricinus, where exchanges between European and North African popula...
The Technology and Innovation Unit of the National Institute of Health: A seque...
Silva, Catarina; Ataíde Sampaio, Daniel; Mendonça, Joana; Carpinteiro, Dina; Duarte, Sílvia; Barreiro, Paula; Isidro, Joana; Machado, MiguelThe National Institute of Health (INSA) has a long tradition in investigating the molecular etiology of genetic and complex diseases. These activities greatly benefit from centralized sequencing services provided by the Technology and Innovation Unit (UTI). Its mission is to perform sequencing and genotyping assays in the framework of research, diagnosis and epidemiological surveillance, as well as to implement...
The Technology and Innovation Unit of the National Institute of Health: a seque...
Silva, Catarina; Ataíde Sampaio, Daniel; Mendonça, Joana; Carpinteiro, Dina; Duarte, Sílvia; Barreiro, Paula; Isidro, Joana; Machado, MiguelThe National Institute of Health (INSA) is the state laboratory in the health sector. INSA has a long tradition in investigating the molecular etiology of genetic and complex diseases and in the identification of pathogenic organisms responsible for disease outbreaks and environmental imbalances. These activities benefit greatly from the existing centralized sequencing services provided by the Technology and In...
Detection of somatic mutations in Wilms tumours using gene panel sequencing
Silva, Catarina; Carpinteiro, Dina; Ataíde Sampaio, Daniel; Vieira, LuísIntroduction: Wilms tumour (WT) is an embryonal kidney neoplasia in which the causative mutations are largely unknown. However, approximately one third of patients display somatic mutations in WT1, CTNNB1, TP53 and/or WTX genes, prompting the design of molecular tests to determine the mutational profile of each patient. In this work we describe a novel molecular assay based on next-generation sequencing (NGS) t...