Targeted Gene Panel Sequencing Unveiled New Pathogenic Mutations in Patients With Breast Cancer.

The increasing commercialization of new gene panels based on next-generation sequencing for clinical research has significantly improved our understanding of breast cancer genetics and has led to the discovery of new mutation variants. The study included 16 unselected Moroccan breast cancer patients tested with multi-gene panel (HEVA screen panel) using Illumina Miseq, followed by Sanger sequencing to validate the most relevant mutation. Mutational analysis revealed the presence of 13 mutations (11 single-nucleotide polymorphisms [SNPs] and 2 indels), and 6 of 11 identified SNPs were predicted as pathogenic.

In Silico Analyses of All STAT3 Missense Variants Leading to Explore Divergent AD-HIES Clinical Phenotypes.

Autosomal dominant hyper-IgE syndrome (AD-HIES) is linked to dominant negative mutations of the STAT3 protein whose molecular basis for dysfunction is unclear and presenting with a variety of clinical manifestations with only supportive treatment. To establish the relationship between the impact of STAT3 mutations in different domains and the severity of the clinical manifestations, 105 STAT3 mutations were analyzed for their impact on protein stability, flexibility, function, and binding affinity using in Silico approaches. Our results showed that 73% of the studied mutations have an impact on the physicochemical properties of the protein, altering the stability, flexibility and function to varying degrees.

Metagenomics Analysis of Breast Microbiome Highlights the Abundance of Rothia Genus in Tumor Tissues.

Breast cancer is one of the main global priorities in terms of public health. It remains the most frequent cancer in women and is the leading cause of their death. The human microbiome plays various roles in maintaining health by ensuring a dynamic balance with the host or in the appearance of various pathologies including breast cancer.

Draft Genome Sequences of Two Enterobacter hormaechei subsp. Strains Isolated from the Moroccan Sahara.

We report the draft genome sequences of Enterobacter hormaechei subsp. strains MDMC82 and MDMC76, which were isolated from the sand dunes of the Merzouga desert in the Moroccan Sahara. These bacteria are able to tolerate the harsh environmental conditions of the Moroccan desert.

Draft Genome Sequences of Three Pseudomonas chengduensis Strains Isolated from Desert Soil in Morocco.

We report the draft genome sequences of three Pseudomonas chengduensis strains isolated from the sand dunes of the Merzouga (MDMC17 strain) and Erg Lihoudi (MDMC216 and MDMC224 strains) regions in the Moroccan desert. These bacteria are able to tolerate the harsh environmental conditions of the desert ecosystem.

Variants of human CLDN9 cause mild to profound hearing loss.

Hereditary deafness is clinically and genetically heterogeneous. We investigated deafness segregating as a recessive trait in two families. Audiological examinations revealed an asymmetric mild to profound hearing loss with childhood or adolescent onset.

Whole-Genome Sequencing of Two Moroccan Mycobacterium tuberculosis Strains.

is known to cause pulmonary and extrapulmonary tuberculosis. In Morocco, the spread of multidrug-resistant (MDR) tuberculosis (TB) has become a major challenge. Here, we announce the draft genome sequences of two strains, MTB1 and MTB2, isolated from patients with pulmonary tuberculosis in Morocco, to describe variants associated with drug resistance.

Large scale genomic analysis of 3067 SARS-CoV-2 genomes reveals a clonal geo-distribution and a rich genetic variations of hotspots mutations.

In late December 2019, an emerging viral infection COVID-19 was identified in Wuhan, China, and became a global pandemic. Characterization of the genetic variants of SARS-CoV-2 is crucial in following and evaluating it spread across countries. In this study, we collected and analyzed 3,067 SARS-CoV-2 genomes isolated from 55 countries during the first three months after the onset of this virus.

Draft Genome Sequences of Six Moroccan Helicobacter pylori Isolates Belonging to the hspWAfrica Group.

affects up to 50% of people worldwide. Here, we present the draft genome sequences of six strains isolated from Moroccan patients with different gastric diseases. Multilocus sequence typing analysis showed that all of the isolates belonged to the hspWAfrica group.