Marc Garibal

Aix-Marseille University | AMU · Marseille Medical Genetics (MMG) - Dep. NeMus - Team C.Beroud BIOINFORMATICS & GENETICS

Introduction: Using the ACMG-AMP guidelines for the interpretation of sequence variants, it remains difficult to meet the criterion associated with the protein domain, PM1, which is assigned in only about 10% of cases, whereas the criteria related to variant frequency, PM2/BA1/BS1, is reported in 50% of cases. To improve the classification of human...

Several studies have demonstrated that LncRNAs can play major roles in cancer development. The creation of a catalog of LncRNAs expressed in T cell acute lymphoblastic leukemia (T-ALL) is thus of particular importance. However, this task is challenging as LncRNA expression is highly restricted in time and space manner and thus may greatly differ be...

Like other tumors, aggressive soft tissue sarcomas (STS) use glycolysis rather than mitochondrial oxidative phosphorylation (OXPHOS) for growth. Given the importance of the cofactor coenzyme A (CoA) in energy metabolism, we investigated the impact of Vnn1 pantetheinase—an enzyme that degrades pantetheine into pantothenate (vitamin B5, the CoA biosy...

Gemmata massiliana is a new Planctomycetes bacterium isolated from a hospital water network in France, using a new culture medium. It is an aerobic microorganism with optimal growth at pH 8, at 30 °C and salinity ≤ 1.25 % NaCl. G. massiliana is resistant to β-lactam antibiotics, due to lack of peptidoglycan in its cell wall.G. massiliana shares a 9...

Methanobrevibacter oralis, an anaerobic methanogenic archaeon, has been previously isolated from the human oral cavity. Here, sequencing a stool isolate (strain JMR01) yielded a 2.065-Mb genome with a 27.78% G+C content containing a total of 2,042 open reading frames and 3 clusters of regularly interspaced short palindromic repeat (CRISPR) loci wit...

We report the draft genome sequence of Methanobrevibacter arboriphilicus strain ANOR1, isolated from the human gut. Its 2.21-Mb genome exhibits a 25.46% G+C content, the lowest value among archaea. The genome of M. arboriphilicus contains a total of 2,111 open reading frames and three clusters of regularly interspaced short palindromic repeat (CRIS...

We report the draft genome sequence of Methanobrevibacter arboriphilicus strain ANOR1, isolated from the human gut. Its 2.21-Mb genome exhibits a 25.46% G+C content, the lowest value among archaea. The genome of M. arboriphilicus contains a total of 2,111 open reading frames and three clusters of regularly interspaced short palindromic repeat (CRIS...

Divergent transcription is a wide-spread phenomenon in mammals. For instance, short bidirectional transcripts are a hallmark of active promoters, while longer transcripts can be detected antisense from active genes in conditions where the RNA degradation machinery is inhibited. Moreover, many described long non-coding RNAs (lncRNAs) are transcribed...