76 research outputs found
Bio-analytical Assay Methods used in Therapeutic Drug Monitoring of Antiretroviral Drugs-A Review
Pathogenic Germline Variants in 10,389 Adult Cancers
We conducted the largest investigation of predisposition variants in cancer to date, discovering 853 pathogenic or likely pathogenic variants in 8% of 10,389 cases from 33 cancer types. Twenty-one genes showed single or cross-cancer associations, including novel associations of SDHA in melanoma and PALB2 in stomach adenocarcinoma. The 659 predisposition variants and 18 additional large deletions in tumor suppressors, including ATM, BRCA1, and NF1, showed low gene expression and frequent (43%) loss of heterozygosity or biallelic two-hit events. We also discovered 33 such variants in oncogenes, including missenses in MET, RET, and PTPN11 associated with high gene expression. We nominated 47 additional predisposition variants from prioritized VUSs supported by multiple evidences involving case-control frequency, loss of heterozygosity, expression effect, and co-localization with mutations and modified residues. Our integrative approach links rare predisposition variants to functional consequences, informing future guidelines of variant classification and germline genetic testing in cancer. A pan-cancer analysis identifies hundreds of predisposing germline variants
Cardio Online Reader/COR: A Web 2.0-Based Tool Aimed at Clinical Decision-Making Support in Cardiology
The hydrostatic-to-lensing mass bias from resolved X-ray and optical-IR data
International audienceAn accurate reconstruction of galaxy cluster masses is key to use this population of objects as a cosmological probe. In this work we present a study on the hydrostatic-to-lensing mass scaling relation for a sample of 53 clusters whose masses were reconstructed homogeneously in a redshift range between and . The mass for each cluster was indeed inferred from the mass profiles extracted from the X-ray and lensing data, without using a priori observable-mass scaling relations. We assessed the systematic dispersion of the masses estimated with our reference analyses with respect to other published mass estimates. Accounting for this systematic scatter does not change our main results, but enables the propagation of the uncertainties related to the mass reconstruction method or used dataset. Our analysis gives a hydrostatic-to-lensing mass bias of and no evidence of evolution with redshift. These results are robust against possible subsample differences
Estimation of the hydrostatic-to-lensing mass bias from resolved cluster masses
International audienceWe present a study on the bias of hydrostatic masses with respect to lensing mass estimates for a sample of 53 clusters in a redshift range between z = 0.05 and 1.07. The M500 mass for each cluster was inferred from X-ray and lensing data, without using a priori observable-mass scaling relations. Cluster masses of our reference analysis were reconstructed homogeneously and we assess the systematic dispersion of those homogeneous masses with respect to other published mass estimates. We obtain an hydrostatic-to-lensing mass bias of (1 â b) = 0.74â0.07+0.08 and no significant evidence of evolution with redshift
The hydrostatic-to-lensing mass bias from resolved X-ray and optical-IR data
International audienceAn accurate reconstruction of galaxy cluster masses is key to use this population of objects as a cosmological probe. In this work we present a study on the hydrostatic-to-lensing mass scaling relation for a sample of 53 clusters whose masses were reconstructed homogeneously in a redshift range between and . The mass for each cluster was indeed inferred from the mass profiles extracted from the X-ray and lensing data, without using a priori observable-mass scaling relations. We assessed the systematic dispersion of the masses estimated with our reference analyses with respect to other published mass estimates. Accounting for this systematic scatter does not change our main results, but enables the propagation of the uncertainties related to the mass reconstruction method or used dataset. Our analysis gives a hydrostatic-to-lensing mass bias of and no evidence of evolution with redshift. These results are robust against possible subsample differences
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