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Biology subjects

Riccardi, B.

Publications and source records attributed to Riccardi, B..

2 recordsLinked to original sources

RecAlign: A* recombination-aware sequence to graph mapping

Pangenomics and long reads bring the promise of integrating read mapping with variant calling, since a pangenome encodes a reference genome that incorporates evolutionary or population aspects, while even a single long read can provide a good evidence of different kinds of variants (not only the single nucleotide variants that can be easily observed by short reads). This promise needs to be fulfilled by the development of new read mapping approaches that are tailored for that purpose. This paper focuses on integrating recombination events, that are key in bacteria, into read mapping. A first approach in that direction [ACBC+24] provides an exact dynamic programming algorithm that is too slow to manage multiple recombinations or long reads. We present a novel A* algorithm for recombination-aware sequence-to-graph mapping that significantly reduces running time by incorporating haplotype information and an efficient heuristic function. Our tool, RecAlign, demonstrates up to a two-order magnitude improvement in time and space complexity over [ACBC+24] and efficiently handles multiple recombinations.

bioinformatics↗

Functional analysis of OCTN2 and ATB0,+ in normal human airway epithelial cells

In human, OCTN2 (SLC22A5) and ATB0,+ (SLC6A14) transporters mediate the uptake of L-carnitine, essential for the transport of fatty acids into mitochondria and the subsequent degradation by {beta}-oxidation. Aim of the present study is to characterize L-carnitine transport in EpiAirway, a 3D organotypic in vitro model of primary human tracheal-bronchial epithelial cells that form a fully differentiated, pseudostratified columnar epithelium at air-liquid interface (ALI) condition. In parallel, Calu-3 monolayers grown at ALI were used as comparison. In EpiAirway, ATB0,+ was highly expressed and functional on the apical side while OCTN2 transporter was active on the basolateral side. Calu-3 cells showed a different pattern of expression and activity for ATB0,+: indeed, L-carnitine uptake on apical side was evident in Calu-3 at 8 days of culture but not in fully differentiated 21d ALI culture. As both ATB0,+ and OCTN2, beyond transporting L-carnitine, have a significant potential as delivery systems for drugs, the identification of these transporters in EpiAirway can open new fields of investigation in the studies of drug inhalation and pulmonary delivery.

cell biology↗