Dataset Information

Ena-DATASET-DKFZ-IBIOS-03-01-2017-12:19:28:146-782 - samples

ABSTRACT: WGS data of medulloblastoma tumor/control pairs.

PROVIDER: EGAD00001003126 | EGA |

REPOSITORIES: EGA

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Publications

The whole-genome landscape of medulloblastoma subtypes.

Northcott Paul A PA Buchhalter Ivo I Morrissy A Sorana AS Hovestadt Volker V Weischenfeldt Joachim J Ehrenberger Tobias T Gröbner Susanne S Segura-Wang Maia M Zichner Thomas T Rudneva Vasilisa A VA Warnatz Hans-Jörg HJ Sidiropoulos Nikos N Phillips Aaron H AH Schumacher Steven S Kleinheinz Kortine K Waszak Sebastian M SM Erkek Serap S Jones David T W DTW Worst Barbara C BC Kool Marcel M Zapatka Marc M Jäger Natalie N Chavez Lukas L Hutter Barbara B Bieg Matthias M Paramasivam Nagarajan N Heinold Michael M Gu Zuguang Z Ishaque Naveed N Jäger-Schmidt Christina C Imbusch Charles D CD Jugold Alke A Hübschmann Daniel D Risch Thomas T Amstislavskiy Vyacheslav V Gonzalez Francisco German Rodriguez FGR Weber Ursula D UD Wolf Stephan S Robinson Giles W GW Zhou Xin X Wu Gang G Finkelstein David D Liu Yanling Y Cavalli Florence M G FMG Luu Betty B Ramaswamy Vijay V Wu Xiaochong X Koster Jan J Ryzhova Marina M Cho Yoon-Jae YJ Pomeroy Scott L SL Herold-Mende Christel C Schuhmann Martin M Ebinger Martin M Liau Linda M LM Mora Jaume J McLendon Roger E RE Jabado Nada N Kumabe Toshihiro T Chuah Eric E Ma Yussanne Y Moore Richard A RA Mungall Andrew J AJ Mungall Karen L KL Thiessen Nina N Tse Kane K Wong Tina T Jones Steven J M SJM Witt Olaf O Milde Till T Von Deimling Andreas A Capper David D Korshunov Andrey A Yaspo Marie-Laure ML Kriwacki Richard R Gajjar Amar A Zhang Jinghui J Beroukhim Rameen R Fraenkel Ernest E Korbel Jan O JO Brors Benedikt B Schlesner Matthias M Eils Roland R Marra Marco A MA Pfister Stefan M SM Taylor Michael D MD Lichter Peter P

Nature 20170701 7663

Current therapies for medulloblastoma, a highly malignant childhood brain tumour, impose debilitating effects on the developing child, and highlight the need for molecularly targeted treatments with reduced toxicity. Previous studies have been unable to identify the full spectrum of driver genes and molecular processes that operate in medulloblastoma subgroups. Here we analyse the somatic landscape across 491 sequenced medulloblastoma samples and the molecular heterogeneity among 1,256 epigeneti ...[more]

PMID: 28726821

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Project description:Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the virus causing coronavirus disease 2019 (COVID-19) was announced as an outbreak by the World Health Organization (WHO) in January 2020 and as a pandemic in March 2020. The majority of infected individuals have experienced no or only mild symptoms, ranging from fully asymptomatic cases to mild pneumonic disease. However, a minority of infected individuals develop severe respiratory symptoms. The objective of this study was to identify susceptible HLA alleles and clinical markers that can be used in risk prediction model for the early identification of severe COVID-19 among hospitalized COVID-19 patients. A total of 137 patients with mild COVID-19 (mCOVID-19) and 53 patients with severe COVID-19 (sCOVID-19) were recruited from the Center Hospital of the National Center for Global Health and Medicine (NCGM), Tokyo, Japan for the period of February-August 2020. High-resolution sequencing-based typing for eight HLA genes was performed using next-generation sequencing. In the HLA association studies, HLA-A*11:01:01:01 [Pc = 0.013, OR = 2.26 (1.27-3.91)] and HLA-C*12:02:02:01-HLA-B*52:01:01:02 [Pc = 0.020, OR = 2.25 (1.24-3.92)] were found to be significantly associated with the severity of COVID-19. After multivariate analysis controlling for other confounding factors and comorbidities, HLA-A*11:01:01:01 [P = 3.34E-03, OR = 3.41 (1.50-7.73)], age at diagnosis [P = 1.29E-02, OR = 1.04 (1.01-1.07)] and sex at birth [P = 8.88E-03, OR = 2.92 (1.31-6.54)] remained significant. The area under the curve of the risk prediction model utilizing HLA-A*11:01:01:01, age at diagnosis, and sex at birth was 0.772, with sensitivity of 0.715 and specificity of 0.717. To the best of our knowledge, this is the first article that describes associations of HLA alleles with COVID-19 at the 4-field (highest) resolution level. Early identification of potential sCOVID-19 could help clinicians prioritize medical utility and significantly decrease mortality from COVID-19.

Dataset Information

Ena-DATASET-DKFZ-IBIOS-03-01-2017-12:19:28:146-782 - samples

Publications

The whole-genome landscape of medulloblastoma subtypes.

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