187 documents found, page 1 of 19

Screening and in silico characterization of prophages in Helicobacter pylori cl...

The increase of antibiotic resistance calls for alternatives to control Helicobacter pylori, a Gram-negative bacterium associated with various gastric diseases. Bacteriophages (phages) can be highly effective in the treatment of pathogenic bacteria. Here, we developed a method to identify prophages in H. pylori genomes aiming at their future use in therapy. A polymerase chain reaction (PCR)-based technique test...

Genetic variants in the IFNGR2 locus associated with severe chronic Q fever

Q fever is a highly contagious zoonosis capable of causing large outbreaks of important health and economic consequences. Host genetic factors are believed to influence the development of severe chronic Q fever following the infection by the etiological agent, Coxiella burnetii. Targetted next generation sequencing (NGS) was performed in a case-control genetic association study on 53 confirmed Q fever cases, in...

Análise genómica no Serviço Nacional de Saúde: modelo colaborativo INSA–ULSSM p...

Educação inclusiva em contexto de pandemia: implicações e desafios

Comparative analysis of hybrid‑SNP microarray and nanopore sequencing for detec...

Background: Nanopore sequencing is a technology that holds great promise for identifying all types of human genome variations, particularly structural variations. In this work, we used nanopore sequencing technology to sequence 2 human cell lines at low depth of coverage to call copy number variations (CNV), and compared the results variant by variant with chromosomal microarray (CMA) results. Results: We analy...

Genetic variants in the IFNGR2 locus associated with severe chronic Q fever

Q fever is a highly contagious zoonosis capable of causing large outbreaks of important health and economic consequences. Host genetic factors are believed to influence the development of severe chronic Q fever following the infection by the etiological agent, Coxiella burnetii. Targetted next generation sequencing (NGS) was performed in a case-control genetic association study on 53 confirmed Q fever cases, in...

Distribution of Chlamydia trachomatis ompA-genotypes over three decades in Port...

Objectives: Chlamydia trachomatis is classified into 15 major genotypes, A to L3, based on the diversity of ompA gene. Here, we evaluated and characterised the distribution and diversity of ompA-genotypes over 32 years (1990–2021) in Portugal. Methods: The collection of the Portuguese National Reference Laboratory for Sexually Transmitted Infections includes 5824 C. trachomatis-positive samples that were succes...

Surveying genetic markers of antibiotic resistance and genomic background in Ch...

Objectives: To survey genetic markers of potential antimicrobial resistance (AMR) to macrolides and fluoroquinolones among Chlamydia trachomatis–positive samples from the collection of the Portuguese National Reference Laboratory for Sexually Transmitted Infections (STIs), and explore a multiplex PCR approach coupled with NGS to provide complementary information regarding a strain’s genomic backbone. Methods: A...

Lymphogranuloma venereum (LGV) ompA-subvariants of the Portuguese collection of...

Background: Lymphogranuloma venereum (LGV) is a sexually transmitted infection caused by Chlamydia trachomatis ompA-genotypes L1–L3, with increasing numbers of detected cases across Europe. Here, we analysed diversity and temporal distribution of the LGV ompA-subvariants detected in Portugal between 2007 and 2023, in order to better understand the dissemination and diversification landscape of LGV strains. Meth...

Probe-based metagenomic pathogen detection: advancing laboratory capacity for c...

Probe-based pathogen enrichment, followed by NGS, is a promising tool for complex diagnosis, overcoming traditional challenges of shotgun metagenomics, namely small microbial/human genetic material ratio and demanding computational resources. Here, we assessed the combined detection performance of two Illumina probe-based panels, the Respiratory and the Urinary Pathogen ID panels (RPIP and UPIP), using 99 clini...