Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data

Authors: Ferdinando Bonfiglio, Andrea Legati, Vito Alessandro Lasorsa, Flavia Palombo, Giulia De Riso, Federica Isidori, Silvia Russo, Simone Furini, Giuseppe Merla, Fabio Coppedè, Marco Tartaglia, Omics Sciences - Bioinformatics and Epigenetics Working Groups of the Italian Society of Human Genetics (SIGU), Alessandro Bruselles, Tommaso Pippucci, Andrea Ciolfi, Michele Pinelli, Mario Capasso

Source: Human Genomics, Vol 18, Iss 1, Pp 1-31 (2024)

Subject Terms: Germline variants, DNA methylation, NGS, Hereditary diseases, Bioinformatics, Genetic diagnostics, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1479-7364

Access URL: https://doaj.org/article/1a28a315c00441ab8ff04e234f98ae3e

Pharmacogenetics in Italy: current landscape and future prospects

Authors: Matteo Floris, Antonino Moschella, Myriam Alcalay, Annalaura Montella, Matilde Tirelli, Laura Fontana, Maria Laura Idda, Pharmacogenomics Working Group of the Italian Society of Human Genetics (SIGU), Paolo Guarnieri, Mario Capasso, Corrado Mammì, Paola Nicoletti, Monica Miozzo

Source: Human Genomics, Vol 18, Iss 1, Pp 1-13 (2024)

Subject Terms: Pharmacogenetics, Pharmacogenomics, Germline testing, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1479-7364

Access URL: https://doaj.org/article/ee98d4d6ede14313a133bbdf3fbf6f01

Six months of different exercise type in sedentary primary schoolchildren: impact on physical fitness and saliva microbiota composition

Authors: Annamaria Mancini, Daniela Vitucci, Vito Alessandro Lasorsa, Corrado Lupo, Paolo Riccardo Brustio, Mario Capasso, Stefania Orrù, Alberto Rainoldi, Federico Schena, Pasqualina Buono

Source: Frontiers in Nutrition, Vol 11 (2024)

Subject Terms: saliva microbiota, schoolchildren, physical fitness, exercise, health, Nutrition. Foods and food supply, TX341-641

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnut.2024.1465707/full; https://doaj.org/toc/2296-861X

Access URL: https://doaj.org/article/a527796f3728410f9de95853e0484e9e

Improving single nucleotide polymorphisms genotyping accuracy for dihydropyrimidine dehydrogenase testing in pharmacogenetics

Authors: Annalaura Montella, Sueva Cantalupo, Giuseppe D’Alterio, Vincenzo Damiano, Achille Iolascon, Mario Capasso

Source: Exploration of Targeted Anti-tumor Therapy, Vol 5, Iss 2, Pp 374-383 (2024)

Subject Terms: pharmacogenetics, dihydropyrimidine dehydrogenase, genotyping, Internal medicine, RC31-1245

File Description: electronic resource

Relation: https://www.explorationpub.com/Journals/etat/Article/1002223; https://doaj.org/toc/2692-3114

Access URL: https://doaj.org/article/60dff7315a9349e4a618a359f3566977

From the identification of actionable molecular targets to the generation of faithful neuroblastoma patient-derived preclinical models

Authors: Mario Capasso, Chiara Brignole, Vito A. Lasorsa, Veronica Bensa, Sueva Cantalupo, Enrico Sebastiani, Alessandro Quattrone, Eleonora Ciampi, Marianna Avitabile, Angela R. Sementa, Katia Mazzocco, Barbara Cafferata, Gabriele Gaggero, Valerio G. Vellone, Michele Cilli, Enzo Calarco, Elena Giusto, Patrizia Perri, Sanja Aveic, Doriana Fruci, Annalisa Tondo, Roberto Luksch, Rossella Mura, Marco Rabusin, Francesco De Leonardis, Monica Cellini, Paola Coccia, Achille Iolascon, Maria V. Corrias, Massimo Conte, Alberto Garaventa, Loredana Amoroso, Mirco Ponzoni, Fabio Pastorino

Source: Journal of Translational Medicine, Vol 22, Iss 1, Pp 1-20 (2024)

Subject Terms: Precision medicine, Neuroblastoma, Target therapy, Preclinical models, next generation sequencing, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1479-5876

Access URL: https://doaj.org/article/dbb768f368d643d1a5a9f03a388be936

Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features

Authors: Gabriele Martelloni, Alessio Turchi, Chiara Fallerini, Andrea Degl’Innocenti, Margherita Baldassarri, Simona Olmi, Simone Furini, Alessandra Renieri, GEN-COVID Multicenter study, Francesca Mari, Sergio Daga, Ilaria Meloni, Mirella Bruttini, Susanna Croci, Mirjam Lista, Debora Maffeo, Elena Pasquinelli, Giulia Brunelli, Kristina Zguro, Viola Bianca Serio, Enrica Antolini, Simona Letizia Basso, Samantha Minetto, Giulia Rollo, Martina Rozza, Angela Rina, Rossella Tita, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Anna Maria Pinto, Francesca Ariani, Francesca Montagnani, Mario Tumbarello, Ilaria Rancan, Massimiliano Fabbiani, Elena Bargagli, Laura Bergantini, Miriana d’Alessandro, Paolo Cameli, David Bennett, Federico Anedda, Simona Marcantonio, Sabino Scolletta, Federico Franchi, Maria Antonietta Mazzei, Susanna Guerrini, Edoardo Conticini, Luca Cantarini, Bruno Frediani, Danilo Tacconi, Chiara Spertilli Raffaelli, Arianna Emiliozzi, Marco Feri, Alice Donati, Raffaele Scala, Luca Guidelli, Genni Spargi, Marta Corridi, Cesira Nencioni, Leonardo Croci, Gian Piero Caldarelli, Davide Romani, Paolo Piacentini, Maria Bandini, Elena Desanctis, Silvia Cappelli, Anna Canaccini, Agnese Verzuri, Valentina Anemoli, Manola Pisani, Agostino Ognibene, Maria Lorubbio, Alessandro Pancrazzi, Massimo Vaghi, Antonella D’Arminio Monforte, Federica Gaia Miraglia, Mario U. Mondelli, Stefania Mantovani, Raffaele Bruno, Marco Vecchia, Marcello Maffezzoni, Enrico Martinelli, Massimo Girardis, Stefano Busani, Sophie Venturelli, Andrea Cossarizza, Andrea Antinori, Alessandra Vergori, Stefano Rusconi, Matteo Siano, Arianna Gabrieli, Agostino Riva, Daniela Francisci, Elisabetta Schiaroli, Carlo Pallotto, Saverio Giuseppe Parisi, Monica Basso, Sandro Panese, Stefano Baratti, Pier Giorgio Scotton, Francesca Andretta, Mario Giobbia, Renzo Scaggiante, Francesca Gatti, Francesco Castelli, Eugenia Quiros-Roldan, Melania Degli Antoni, Isabella Zanella, Matteo della Monica, Carmelo Piscopo, Mario Capasso, Roberta Russo, Immacolata Andolfo, Achille Iolascon, Giuseppe Fiorentino, Massimo Carella, Marco Castori, Giuseppe Merla, Gabriella Maria Squeo, Filippo Aucella, Pamela Raggi, Rita Perna, Matteo Bassetti, Antonio Di Biagio, Maurizio Sanguinetti, Luca Masucci, Alessandra Guarnaccia, Serafina Valente, Alex Di Florio, Marco Mandalà, Alessia Giorli, Lorenzo Salerni, Patrizia Zucchi, Pierpaolo Parravicini, Elisabetta Menatti, Tullio Trotta, Ferdinando Giannattasio, Gabriella Coiro, Fabio Lena, Gianluca Lacerenza, Cristina Mussini, Luisa Tavecchia, Lia Crotti, Gianfranco Parati, Roberto Menè, Maurizio Sanarico, Marco Gori, Francesco Raimondi, Alessandra Stella, Filippo Biscarini, Tiziana Bachetti, Maria Teresa La Rovere, Maurizio Bussotti, Serena Ludovisi, Katia Capitani, Simona Dei, Sabrina Ravaglia, Annarita Giliberti, Giulia Gori, Rosangela Artuso, Elena Andreucci, Angelica Pagliazzi, Erika Fiorentini, Antonio Perrella, Francesco Bianchi, Paola Bergomi, Emanuele Catena, Riccardo Colombo, Sauro Luchi, Giovanna Morelli, Paola Petrocelli, Sarah Iacopini, Sara Modica, Silvia Baroni, Giulia Micheli, Marco Falcone, Donato Urso, Giusy Tiseo, Tommaso Matucci, Davide Grassi, Claudio Ferri, Franco Marinangeli, Francesco Brancati, Antonella Vincenti, Valentina Borgo, Stefania Lombardi, Mirco Lenzi, Massimo Antonio Di Pietro, Francesca Vichi, Benedetta Romanin, Letizia Attala, Cecilia Costa, Andrea Gabbuti, Alessio Bellucci, Marta Colaneri, Patrizia Casprini, Cristoforo Pomara, Massimiliano Esposito, Roberto Leoncini, Michele Cirianni, Lucrezia Galasso, Marco Antonio Bellini, Chiara Gabbi, Nicola Picchiotti

Source: Frontiers in Genetics, Vol 15 (2024)

Subject Terms: COVID-19, host genetics, integrated polygenic score, genetic algorithm, logistic regression, genetic science modeling, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1362469/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/2ccef210408b4a0bb20150b784f90208

Label-free liquid biopsy through the identification of tumor cells by machine learning-powered tomographic phase imaging flow cytometry

Authors: Daniele Pirone, Annalaura Montella, Daniele G. Sirico, Martina Mugnano, Massimiliano M. Villone, Vittorio Bianco, Lisa Miccio, Anna Maria Porcelli, Ivana Kurelac, Mario Capasso, Achille Iolascon, Pier Luca Maffettone, Pasquale Memmolo, Pietro Ferraro

Source: Scientific Reports, Vol 13, Iss 1, Pp 1-13 (2023)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/b26503fa8e634fc5822b55c9fa8f60cc

Phenotyping neuroblastoma cells through intelligent scrutiny of stain-free biomarkers in holographic flow cytometry

Authors: Daniele Pirone, Annalaura Montella, Daniele Sirico, Martina Mugnano, Danila Del Giudice, Ivana Kurelac, Matilde Tirelli, Achille Iolascon, Vittorio Bianco, Pasquale Memmolo, Mario Capasso, Lisa Miccio, Pietro Ferraro

Source: APL Bioengineering, Vol 7, Iss 3, Pp 036118-036118-15 (2023)

Subject Terms: Biotechnology, TP248.13-248.65, Medical technology, R855-855.5

File Description: electronic resource

Relation: https://doaj.org/toc/2473-2877

Access URL: https://doaj.org/article/b6eed01937cb46a2a5947a42b4436034

Landscape of alcohol-related hepatocellular carcinoma in the last 15 years highlights the need to expand surveillance programs

Authors: Nicola Reggidori, Laura Bucci, Valentina Santi, Benedetta Stefanini, Lorenzo Lani, Davide Rampoldi, Giorgia Ghittoni, Fabio Farinati, Alberto Masotto, Bernardo Stefanini, Andrea Mega, Elisabetta Biasini, Francesco Giuseppe Foschi, Gianluca Svegliati-Baroni, Angelo Sangiovanni, Claudia Campani, Giovanni Raimondo, Gianpaolo Vidili, Antonio Gasbarrini, Ciro Celsa, Mariella Di Marco, Edoardo G. Giannini, Rodolfo Sacco, Maurizia Rossana Brunetto, Francesco Azzaroli, Donatella Magalotti, Filomena Morisco, Gian Ludovico Rapaccini, Gerardo Nardone, Alessandro Vitale, Franco Trevisani, Maurizio Biselli, Paolo Caraceni, Annagiulia Gramenzi, Francesca Benevento, Alessandro Granito, Luca Muratori, Fabio Piscaglia, Francesco Tovoli, Gloria Allegrini, Calogero Cammà, Giuseppe Cabibbo, Carmelo Marco Giacchetto, Paolo Giuffrida, Maria Vittoria Grassini, Mauro Grova, Gabriele Rancatore, Caterina Stornello, Valentina Adotti, Tancredi Li Cavoli, Fabio Marra, Martina Rosi, Vittoria Bevilacqua, Alberto Borghi, Lucia Napoli, Fabio Conti, G.L. Frassineti, Maria Teresa Migliano, Nicoletta de Matthaeis, Francesca Romana Ponziani, Gabriele Missale, Andrea Olivani, Mario Capasso, Valentina Cossiga, Maria Guarino, Ester Marina Cela, Antonio Facciorusso, Camilla Graziosi, Valentina Lauria, Giorgio Pelecca, Marta Schirripa, Fabrizio Chegai, Armando Raso, Alessio Bozzi, Maria Stella Franzè, Carlo Saitta, Assunta Sauchella, Elton Dajti, Federico Ravaioli, Maria Corina Plaz Torres, Giulia Pieri, Filippo Oliveri, Gabriele Ricco, Veronica Romagnoli, Alessandro Inno, Fabiana Marchetti, Pietro Coccoli, Antonio Malerba, Alberta Cappelli, Rita Golfieri, Cristina Mosconi, Matteo Renzulli

Source: JHEP Reports, Vol 5, Iss 8, Pp 100784- (2023)

Subject Terms: Hepatocellular carcinoma, Alcohol abuse, ITA.LI.CA staging system, Metabolic dysfunction-associated fatty liver disease, Surveillance programs, Oesophageal varices, Diseases of the digestive system. Gastroenterology, RC799-869

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2589555923001155; https://doaj.org/toc/2589-5559

Access URL: https://doaj.org/article/994809fcb7eb4d6c91173f05293807e2

Perturbation of serine enantiomers homeostasis in the striatum of MPTP-lesioned monkeys and mice reflects the extent of dopaminergic midbrain degeneration

Authors: Marcello Serra, Anna Di Maio, Valentina Bassareo, Tommaso Nuzzo, Francesco Errico, Federica Servillo, Mario Capasso, Pathik Parekh, Qin Li, Marie-Laure Thiolat, Erwan Bezard, Paolo Calabresi, David Sulzer, Manolo Carta, Micaela Morelli, Alessandro Usiello

Source: Neurobiology of Disease, Vol 184, Iss , Pp 106226- (2023)

Subject Terms: Parkinson's disease, caudate putamen, serine racemase, alanine serine cysteine transporter 1 (ASCT1), 3-phosphoglycerate dehydrogenase (PHGDH), ionotropic N-methyl-d-aspartate receptors (NMDAR), Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996123002413; https://doaj.org/toc/1095-953X

Access URL: https://doaj.org/article/32f6acc0b6824302a2510d94ba1684ce

Impact of active lifestyle on the primary school children saliva microbiota composition

Authors: Annamaria Mancini, Claudia Cerulli, Daniela Vitucci, Vito Alessandro Lasorsa, Daniela Parente, Andrea Di Credico, Stefania Orrù, Paolo Riccardo Brustio, Corrado Lupo, Alberto Rainoldi, Federico Schena, Mario Capasso, Pasqualina Buono

Source: Frontiers in Nutrition, Vol 10 (2023)

Subject Terms: lifestyle, exercise, saliva, microbiota, children, Nutrition. Foods and food supply, TX341-641

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnut.2023.1226891/full; https://doaj.org/toc/2296-861X

Access URL: https://doaj.org/article/51d428b800334080b8c523304806d9ec

P1468: PIEZO1 GAIN-OF-FUNCTION VARIANTS ACCOUNT FOR STRESSED ERYTHROPOIESIS BY ALTERING APOPTOSIS, HYPOXIA CELL RESPONSE, AND GLYCOLYSIS

Authors: Barbara Eleni Rosato, Vanessa D’onofrio, Antonella Nostroso, Roberta Marra, Federica Maria Esposito, Maddalena Raia, Giuseppe D’alterio, Mario Capasso, Achille Iolascon, Roberta Russo, Immacolata Andolfo

Source: HemaSphere, Vol 7, p e70724eb (2023)

Subject Terms: Diseases of the blood and blood-forming organs, RC633-647.5

File Description: electronic resource

Relation: http://journals.lww.com/10.1097/01.HS9.0000972756.70724.eb; https://doaj.org/toc/2572-9241

Access URL: https://doaj.org/article/c237e5f10ff84b6cb904e09714969971

P1470: IDENTIFICATION OF THE PRO20THR NOVEL VARIANT IN CDIN1 GENE ALLOWED EXPLORING THE BIOLOGICAL PROCESSES IMPAIRED IN CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I

Authors: Roberta Marra, Antonella Nostroso, Federica Maria Esposito, Barbara Eleni Rosato, Vanessa D’onofrio, Giuseppe D’alterio, Mario Capasso, Achille Iolascon, Immacolata Andolfo, Roberta Russo

Source: HemaSphere, Vol 7, p e831813d (2023)

Subject Terms: Diseases of the blood and blood-forming organs, RC633-647.5

File Description: electronic resource

Relation: http://journals.lww.com/10.1097/01.HS9.0000972764.83181.3d; https://doaj.org/toc/2572-9241

Access URL: https://doaj.org/article/ac3c37d6eb8640c687d14efb2e07f618

Post-GWAS Functional Analysis of the 11p11.2 Risk Locus Identifies HSD17B12 as a Neuroblastoma Susceptibility Gene Involved in Lipid Metabolism

Authors: Teresa Maiorino, Marianna Avitabile, Vito Alessandro Lasorsa, Annalaura Montella, Sueva Cantalupo, Matilde Tirelli, Martina Morini, Alessandra Eva, Marianna Caterino, Margherita Ruoppolo, John M. Maris, Sharon J. Diskin, Achille Iolascon, Mario Capasso

Source: Proceedings, Vol 100, Iss 1, p 16 (2024)

Subject Terms: genome-wide screening/GWAS, neuroblastoma, genetic predisposition, functional genomics, lipid metabolism, General Works

File Description: electronic resource

Relation: https://www.mdpi.com/2504-3900/100/1/16; https://doaj.org/toc/2504-3900

Access URL: https://doaj.org/article/b60be75a5b864a75ab8c376d2d5b74b3

Noncoding Regulatory Mutations as a Driving Event for the Oncogenic Core Regulatory Circuitries of Neuroblastoma

Authors: Vincenzo Aievola, Vito Alessandro Lasorsa, Annalaura Montella, Ferdinando Bonfiglio, Marianna Avitabile, Teresa Maiorino, Matilde Tirelli, Giuseppe D’Alterio, Matthias Fischer, Frank Westermann, Achille Iolascon, Mario Capasso

Source: Proceedings, Vol 100, Iss 1, p 18 (2024)

Subject Terms: neuroblastoma, genomics, somatic mutations, next-generation sequencing, General Works

File Description: electronic resource

Relation: https://www.mdpi.com/2504-3900/100/1/18; https://doaj.org/toc/2504-3900

Access URL: https://doaj.org/article/906571d8d144407c861ae1b77fd708a1

FGFR1 is a potential therapeutic target in neuroblastoma

Authors: Flora Cimmino, Annalaura Montella, Matilde Tirelli, Marianna Avitabile, Vito Alessandro Lasorsa, Feliciano Visconte, Sueva Cantalupo, Teresa Maiorino, Biagio De Angelis, Martina Morini, Aurora Castellano, Franco Locatelli, Mario Capasso, Achille Iolascon

Source: Cancer Cell International, Vol 22, Iss 1, Pp 1-17 (2022)

Subject Terms: FGFR1, Metastasis, Mutation, Neuroblastoma, Targeted therapy, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Cytology, QH573-671

File Description: electronic resource

Relation: https://doaj.org/toc/1475-2867

Access URL: https://doaj.org/article/ac047a0c6811417d93f8e3d0fffdff20

Single-cell transcriptomics of neuroblastoma identifies chemoresistance-associated genes and pathways

Authors: Marianna Avitabile, Ferdinando Bonfiglio, Vincenzo Aievola, Sueva Cantalupo, Teresa Maiorino, Vito Alessandro Lasorsa, Cinzia Domenicotti, Barbara Marengo, Heger Zbyněk, Adam Vojtěch, Achille Iolascon, Mario Capasso

Source: Computational and Structural Biotechnology Journal, Vol 20, Iss , Pp 4437-4445 (2022)

Subject Terms: Drug resistance, Intra-tumor heterogenity (ITH), Neuroblastoma (NB), Prognostic biomarkers, Single cell transcriptomics, Biotechnology, TP248.13-248.65

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2001037022003658; https://doaj.org/toc/2001-0370

Access URL: https://doaj.org/article/3766b2df7ed149da9cfb02666193438e

CFDP1 is a neuroblastoma susceptibility gene that regulates transcription factors of the noradrenergic cell identity

Authors: Daniela Formicola, Vito Alessandro Lasorsa, Sueva Cantalupo, Alessandro Testori, Antonella Cardinale, Marianna Avitabile, Sharon Diskin, Achille Iolascon, Mario Capasso

Source: HGG Advances, Vol 4, Iss 1, Pp 100158- (2023)

Subject Terms: GWAS, SNP, neuroblastoma, neural crest cells, coronary artery disease, pleiotropic variants, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247722000756; https://doaj.org/toc/2666-2477

Access URL: https://doaj.org/article/9a7c30faddfd4f2185e66863ef345267

Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants

Authors: Stefania Martone, Autilia Tommasina Buonagura, Roberta Marra, Barbara Eleni Rosato, Federica Del Giudice, Ferdinando Bonfiglio, Mario Capasso, Achille Iolascon, Immacolata Andolfo, Roberta Russo

Source: Frontiers in Genetics, Vol 13 (2022)

Subject Terms: secondary findings, clinical exome, genetic testing, ACMG actionable genes, NGS testing, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.956723/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/fbc8f069e24f4572a24866b39ea0983d

Restoration of the molecular clock is tumor suppressive in neuroblastoma

Authors: Myrthala Moreno-Smith, Giorgio Milazzo, Ling Tao, Baharan Fekry, Bokai Zhu, Mahmoud A. Mohammad, Simone Di Giacomo, Roshan Borkar, Karthik Reddy Kami Reddy, Mario Capasso, Sanjeev A. Vasudevan, Pavel Sumazin, John Hicks, Nagireddy Putluri, Giovanni Perini, Kristin Eckel-Mahan, Thomas P. Burris, Eveline Barbieri

Source: Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/36f78ce6f76041c49c8161f0733a70f4