The Use of Non-Variant Sites to Improve the Clinical Assessment of Whole-Genome Sequence Data

The Use of Non-Variant Sites to Improve the Clinical Assessment of Whole-Genome Sequence Data.Genetic testing is often based on the assessment of small panels of variants or genes. Autori: Ferrarini A, Xumerle L, Griggio F, Garonzi M, Cantaloni C, Centomo C, Vargas SM, Descombes P, Marquis J, Collino S, Franceschi C, Garagnani P, Salisbury BA, Harvey JM, Delledonne M. PLoS One. 2015 Jul 6;10(7):e0132180. Continuous improvements in the speed and…

Decreased epigenetic age of PBMCs from Italian semi-supercentenarians and their offspring

Decreased epigenetic age of PBMCs from Italian semi-supercentenarians and their offspring.Importance to understand the genetic of healthy ageing. Autori: Horvath S, Pirazzini C, Bacalini MG, Gentilini D, Di Blasio AM, Delledonne M, Mari D, Arosio B, Monti D, Passarino G, De Rango F, D’Aquila P, Giuliani C, Marasco E, Collino S, Descombes P, Garagnani P, Franceschi C. Aging (Albany NY). 2015 Dec;7(12):1159-70. Semi-supercentenarians (subjects who reached an age of 105-109 years) arguably represent…

Società Italiana di Genetica Umana (SIGU)

Società Italiana di Genetica Umana (SIGU)Società Italiana di Genetica Umana. La SIGU è la struttura di riferimento per problemi di interesse scientifico e sanitario concernenti la Genetica Umana. La SIGU elabora criteri di qualità per i laboratori di Genetica Medica operanti nell’ambito delle strutture sanitarie pubbliche e private, contribuendo alla elaborazione di linee guida nell’ambito…

Palmoplantar keratoderma and Charcot-Marie-Tooth disease: combination of two independent genetic diseases? Identification of two point mutations in the MPZ and KRT1 genes by whole-exome sequencing

Palmoplantar keratoderma and Charcot-Marie-Tooth disease: combination of two independent genetic diseases? Identification of two point mutations in the MPZ and KRT1 genes by whole-exome sequencingThis study was supported in part by Ricerca Corrente 2012?2015 from the Italian Ministry of Health. Autori: Gagliardi S, Ricca I, Ferrarini A, Valente M, Grieco GS, Piccolo G, Alfonsi E, Delledonne M, Cereda C. Br J. Dermatol. 2017 Jul;177(1):284-286.…

Optimized pipeline of MuTect and GATK tools to improve the detection of somatic single nucleotide polymorphisms in whole-exome sequencing data

Optimized pipeline of MuTect and GATK tools to improve the detection of somatic single nucleotide polymorphisms in whole-exome sequencing data.Detecting somatic mutations for profiling cancer development and chemotherapy resistance. Autori: do Valle ÍF, Giampieri E, Simonetti G, Padella A, Manfrini M, Ferrari A, Papayannidis C, Zironi I, Garonzi M, Bernardi S, Delledonne M, Martinelli G, Remondini D, Castellani G. BMC Bioinformatics. 2016 Nov 8;17(Suppl 12):341. We aimed to develop…

European Society of Human Genetics (ESHG)

European Society of Human Genetics (ESHG).European Human Genetics Conference. La conferenza Europea di Genetica Umana si è svolta quest’anno in collaborazione con il meeting sugli aspetti psicosociali della genetica, a Milano, il 16-19 giugno 2018. Personal Genomics era presente al Congresso con il Professor Massimo Delledonne; temi trattati: diagnosi prenatale e analisi genetica con sequenziamento…

SETD2 and histone H3 lysine 36 methylation deficiency in advanced systemic mastocytosis

SETD2 and histone H3 lysine 36 methylation deficiency in advanced systemic mastocytosis.The molecular basis of advanced systemic mastocytosis (SM). Autori: Martinelli G, Mancini M, De Benedittis C, Rondoni M, Papayannidis C, Manfrini M, Meggendorfer M, Calogero R, Guadagnuolo V, Fontana MC, Bavaro L, Padella A, Zago E, Pagano L, Zanotti R, Scaffidi L, Specchia G, Albano F, Merante S, Elena C, Savini P, Gangemi D, Tosi P, Ciceri F, Poletti G, Riccioni L, Morigi F, Delledonne M, Haferlach T, Cavo M, Valent P, Soverini S. Leukemia. 2018…

Physical Activity and Nutrition INfluences In ageing (PANINI): consortium mission statement

Physical Activity and Nutrition INfluences In ageing (PANINI): consortium mission statement.By 2020 almost one in five of the European population will be aged 65 years or over. Autori: Whittaker AC, Delledonne M, Finni T, Garagnani P, Greig C, Kallen V, Kokko K, Lord J, Maier AB, Meskers CGM, Santos NC, Sipila S, Thompson JL, van Riel N. Aging Clin Exp Res. 2018 Jun;30(6):685-692. Epub 2017 Sep 1. Although life expectancy…

On site DNA barcoding by nanopore sequencing

On site DNA barcoding by nanopore sequencing.Biodiversity research is becoming increasingly dependent on genomics. Autori: Menegon M, Cantaloni C, Rodriguez-Prieto A, Centomo C, Abdelfattah A, Rossato M, Bernardi M, Xumerle L, Loader S, Delledonne M. PLoS One. 2017 Oct 4;12(10):e0184741. The use of genetic markers i.e. DNA barcoding, has proved to be a powerful tool in species identification. However, full exploitation of this approach is…

Characterization of a new B-ALL cell line with constitutional defect of the Notch signaling pathway

Characterization of a new B-ALL cell line with constitutional defect of the Notch signaling pathway.Notch signaling contribution to B-cell acute lymphoblastic leukemia (B-ALL) development is still under investigation. Autori: Kamga PT, Dal Collo G, Bassi G, Midolo M, Delledonne M, Chilosi M, Bonifacio M, Krampera M. Oncotarget. 2018 Apr 6;9(26):18341-18350. The serendipitous onset of B-ALL in a patient affected by the germinal Notch…