Publications by authors named "Maria S Nobrega"
Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.
Front Genet
August 2022
Article Synopsis
- Hearing loss (HL) is common and poses both clinical and social challenges; a study analyzed whole-genome sequencing data from 2,097 individuals without HL to find variant associations with nonsyndromic hearing loss (NSHL).
- The researchers identified 10.59% of individuals as heterozygotes for sequence variants and a lower percentage for copy-number variants, with certain genes frequently linked to HL.
- A notable finding was that 4.96% of participants had variants tied to autosomal dominant NSHL, suggesting a potential risk for future hearing loss, and the estimated population frequency for affected individuals with autosomal recessive NSHL was about 1 in 2,222.
Rare diseases affect up to 13.2 million individuals in Brazil. The Brazilian Rare Genomes Project is envisioned to further the implementation of genomic medicine into the Brazilian public healthcare system.
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- Mangroves in macro-tidal areas are crucial for carbon sequestration, but the role of their microbial communities in carbon and nutrient cycling is not fully understood.
- A study in the Amazon's extensive mangrove system showed that tidal influences significantly affect the composition and metabolism of microbial communities, especially in sulfur and nitrogen cycling.
- Findings indicated that specific microbial groups consistently drive carbon, nitrogen, and sulfur cycles across different spatial and temporal scales, highlighting the importance of tidal porewater exchange for these ecosystem processes.
Since the first reported case of the new coronavirus infection in Wuhan, China, researchers and governments have witnessed an unseen rise in the number of cases. Thanks to the rapid work of Chinese scientists, the pathogen now called SARS-CoV-2 has been identified and its whole genome was deposited in public databases by early January 2020. The availability of the genome has allowed researchers to develop Reverse Transcription-Polymerase Chain Reaction (RT-PCR) assays, which are now the gold-standard for molecular diagnosis of the respiratory syndrome COVID19.
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- - MALDI-TOF MS is a quick and cost-effective method originally used for identifying clinical bacteria, but this study explores its application to marine bacteria from various sources like corals and fish.
- - The researchers analyzed 255 marine bacterial isolates, revealing 18 distinct groups that include well-known genera such as Vibrio and Bacillus.
- - Results showed that higher MALDI-TOF similarity scores correlate with high genetic similarity, indicating that this technique is effective in identifying Vibrio species.
Genome Sequences of sp. nov. and sp. nov., Isolated from Rhodoliths.
Microbiol Resour Announc
November 2018
We report here the genome sequences of the novel isolates G62 and G98 from rhodoliths. The nearly complete genomes consisted of 4.7 Mbp (4,233 coding sequences [CDS]) for G62 and 4.
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- Two new strains of Gram-negative bacteria, PEL67E and PEL68C, were isolated from the Abrolhos Bank and classified as a new species, Alteromonas abrolhosensis, based on whole genome analysis.
- These strains show 99% sequence identity to known bacteria but have significant differences in genetic and phenotypic traits, such as their ability to assimilate specific sugars and produce certain enzymes.
- Both strains have a G + C content of 44.5%, with various identity measures indicating their uniqueness compared to closely related species, highlighting their potential for further study in microbial taxonomy.
We present here the draft genome sequence of sp. strain PAB 2.2, isolated from water of Parcel de Abrolhos coral reef (17°57'32.
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