Francesco Maria Calabrese

TL;DR: Changes in Lachnospiraceae abundances according to health and disease are discussed and how nutrients from the host diet can influence their growth and how their metabolites can, in turn, influence host physiology are analyzed.

TL;DR: In this paper, a multi-omic approach that goes behind the mere gut phylogenetic composition and provides an overall picture of the functional repertoire in 27 fecal samples from omnivorous, vegan and vegetarian volunteers was used for the first time.

TL;DR: End-users accessing HmtDB are allowed to browse the database through the use of a multi-criterion ‘query’ system and analyze their own human mitochondrial sequences via the ‘classify’ tool or by downloading the “fragment-classifier” tool (for partial sequences).

TL;DR: RHNumtS.2 is presented, the most exhaustive human NumtSome catalogue annotating 585 NumtS, 97% of which were here validated in a European individual and in HapMap samples, a resource whose aim is to support several research applications, such as studies concerning human structural variation, diversity, and disease, as well as the detection of false heteroplasmic mtDNA variants.

TL;DR: The analyses show pathway-level implications of infrequently mutated genes in leading neuroblastoma progression, and Notably BARD1, CHEK2 and AXIN2 were enriched in rare, potentially pathogenic, germline variants.