Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

Funder: NCI U24CA211006Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts

Epidemiological and clinical aspects of scorpionism by Tityus trivittatus in Argentina

This is a descriptive study of epidemiological and clinical aspects of stings caused by the scorpion Tityus trivittatus in Argentina. We analyzed 511 cases recorded from different health centers in 22 provinces. Most accidents took place during the period November-April (76%), in or nearby houses (86%). Over 50% of the accidents involved children and teenagers. Envenomation by T. trivittatus was mainly characterized by local symptoms: pain (85%), edema (26.6%), burning sensation (24.7%), erythema (20.7%), local hyperthermia (13.1%), paresthesia (9.8%) and general manifestations such as vomiting (25%), paleness (18.8%), headache (11.4%) and sweating (8.2%). Neurological, cardiovascular and respiratory disorders were uncommon. Almost 90% of the injured people got treated with specific antivenom within 2 h, 6% were treated 2-h after the accident and only 2 people were treated 12 or more hours after being stung. The global mortality recorded was 6 per 1000 cases. Scorpionism in Argentina is a public health problem under control due to the relatively low incidence and the accessibility of specific antivenom.Fil: de Roodt, Adolfo Rafael. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Nordeste; Argentina. Ministerio de Salud de la Nación. Dirección Nacional de Institutos de Investigación. Administración Nacional de Laboratorios e Institutos de Salud ; ArgentinaFil: García, Susana Isabel. Ministerio de Salud de la Nación. Dirección de Promoción y Protección de la Salud; ArgentinaFil: Salomón, Oscar Daniel. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Dirección Nacional de Institutos de Investigación. Administración Nacional de Laboratorios e Institutos de Salud. Centro Nacional de Diagnóstico e Investigaciones Endemo-epidémicas; ArgentinaFil: Segre, Liliana. Ministerio de Salud de la Nación. Dirección Nacional de Institutos de Investigación. Administración Nacional de Laboratorios e Institutos de Salud ; ArgentinaFil: Dolab, Jorge A.. Ministerio de Salud de la Nación. Dirección Nacional de Institutos de Investigación. Administración Nacional de Laboratorios e Institutos de Salud ; ArgentinaFil: Funes, Raúl F.. Ministerio de Salud de la Nación. Dirección Nacional de Institutos de Investigación. Administración Nacional de Laboratorios e Institutos de Salud ; ArgentinaFil: de Titto, Ernesto Horacio. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Ministerio de Salud de la Nación. Dirección de Promoción y Protección de la Salud; Argentin

Socialism of Fools:Anti-Jewish Anticapitalism and Ideological Polarization in Modern Europe

La reazione alla emancipazione giuridica e ai diritti di cittadinanza si alimenta della identificazione dei nuovi soggetti economici e degli imprenditori con le élites ebraich

Socialism of Fools:Anti-Jewish Anticapitalism and Ideological Polarization in Modern Europe

La reazione alla emancipazione giuridica e ai diritti di cittadinanza si alimenta della identificazione dei nuovi soggetti economici e degli imprenditori con le élites ebraich

Vol. 1, n. 1 (2019): Persona, Cura, Territorio. Nuovi paradigmi educativi

Vol. 1, n. 1 (2019): Indirizzo di saluto della Senatrice Liliana Segre, P. 1 ; Mannese, E., Presentazione, P. 1 ; Iori, V. ; Editoriale-Il territorio e l’abitare: prendersi cura delle relazioni educative, P. 2 ; Balzano, V., Il volontariato come pratica di dono e relazione d’aiuto nella costruzione del progetto di vita, P. 10 ; Birbes, C., Verso un’abitanza sostenibile, P. 16 ; Castaldi, M.C., Progettare l’educativo nei contesti territoriali: premesse e operatività, P. 24 ; De Simone, M., Paesaggi di vita e paesaggi dell’educativo: un laboratorio clinico pedagogico con gli studenti universitari, P. 30 ; Gherardi, V., Leonardi, G., Scuola e territorio. Un progetto partecipato didattico culturale, P. 40 ; Giovannazzi, T., Sviluppo umano, cura, ambiente. Alcune riflessioni pedagogiche, P. 46 ; Iavarone, M.L., Varriale, L., Girardi, F., Ambra, F.V., Un esperimento di pedagogia civile. Il Master dell’Università Parthenope per “Educatori sportivi per la prevenzione del rischio”. P. 56 ; Lo Piccolo, A., Mingrino, M., Passaniti, V., Formazione umana e pedagogia della corporeità nell’era digitale, P. 68 ; Lombardi, M.G., Educare al territorio tra competenze e responsabilità, P. 78 ; Orlandini, L., Giunti, C., Educare alla territorialità attraverso l’approccio pedagogico del Service Learning, P. 82 ; Picco, M.E., Pedagogía y Personalismo, P. 95 ; Pignalberi, C., Direzione 2030: esperienze di cooperazione e partecipazione attiva alla rigenerazione educativa di comunità, P. 102 ; Pistillo, G., Alle origini della cura. Il sistema madre-bambino come paradigma del cambiamento e la dinamica del contatto, P. 116 ; Ricciardi, M., La pedagogia del lavoro: apprendimento generativo, innovazione e territorio per la formazione dei talenti, P. 126 ; Sirignano, F.M., Maddalena, S., El metodo autobiografico y la circularidad formativa, entre narraciones, emociones, contaminaciones, P. 135 ; Sottocorno, M., La Questione della Povertà Educativa. Prospettive Pedagogiche di Riflessione e di Intervento, P. 145 ; Vacchelli, O., Educazione alla territorialità ed etica della responsabilità, P. 152

Sex differences in oncogenic mutational processes

Funder: Canadian Network for Research and Innovation in Machining Technology, Natural Sciences and Engineering Research Council of Canada (NSERC Canadian Network for Research and Innovation in Machining Technology); doi: https://doi.org/10.13039/501100002790Funder: Genome Canada (Génome Canada); doi: https://doi.org/10.13039/100008762Funder: Canada Foundation for Innovation (Fondation canadienne pour l'innovation); doi: https://doi.org/10.13039/501100000196Funder: Terry Fox Research Institute (Institut de Recherche Terry Fox); doi: https://doi.org/10.13039/501100004376Abstract: Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features have focused on somatic mutations within the coding regions of the genome. Here we report a pan-cancer analysis of sex differences in whole genomes of 1983 tumours of 28 subtypes as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. We both confirm the results of exome studies, and also uncover previously undescribed sex differences. These include sex-biases in coding and non-coding cancer drivers, mutation prevalence and strikingly, in mutational signatures related to underlying mutational processes. These results underline the pervasiveness of molecular sex differences and strengthen the call for increased consideration of sex in molecular cancer research

Sex differences in oncogenic mutational processes

Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features have focused on somatic mutations within the coding regions of the genome. Here we report a pan-cancer analysis of sex differences in whole genomes of 1983 tumours of 28 subtypes as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. We both confirm the results of exome studies, and also uncover previously undescribed sex differences. These include sex-biases in coding and non-coding cancer drivers, mutation prevalence and strikingly, in mutational signatures related to underlying mutational processes. These results underline the pervasiveness of molecular sex differences and strengthen the call for increased consideration of sex in molecular cancer research.Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features have focused on somatic mutations within the coding regions of the genome. Here we report a pan-cancer analysis of sex differences in whole genomes of 1983 tumours of 28 subtypes as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. We both confirm the results of exome studies, and also uncover previously undescribed sex differences. These include sex-biases in coding and non-coding cancer drivers, mutation prevalence and strikingly, in mutational signatures related to underlying mutational processes. These results underline the pervasiveness of molecular sex differences and strengthen the call for increased consideration of sex in molecular cancer research.Peer reviewe

Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

Funder: NCI U24CA211006Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts