Quantum key distribution and cryptography: a survey

I will try to partially answer, based on a review on recent work, the following question: Can QKD and more generally quantum information be useful to cover some practical security requirements in current (and future) IT infrastructures ? I will in particular cover the following topics - practical performances of QKD - QKD network deployment - SECOQC project - Capabilities of QKD as a cryptographic primitive - comparative advantage with other solution, in order to cover practical security requirements - Quantum information and Side-channels - QKD security assurance - Thoughts about "real" Post-Quantum Cryptograph

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.

To identify common alleles associated with different histotypes of epithelial ovarian cancer (EOC), we pooled data from multiple genome-wide genotyping projects totaling 25,509 EOC cases and 40,941 controls. We identified nine new susceptibility loci for different EOC histotypes: six for serous EOC histotypes (3q28, 4q32.3, 8q21.11, 10q24.33, 18q11.2 and 22q12.1), two for mucinous EOC (3q22.3 and 9q31.1) and one for endometrioid EOC (5q12.3). We then performed meta-analysis on the results for high-grade serous ovarian cancer with the results from analysis of 31,448 BRCA1 and BRCA2 mutation carriers, including 3,887 mutation carriers with EOC. This identified three additional susceptibility loci at 2q13, 8q24.1 and 12q24.31. Integrated analyses of genes and regulatory biofeatures at each locus predicted candidate susceptibility genes, including OBFC1, a new candidate susceptibility gene for low-grade and borderline serous EOC

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Abstract: Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P < 10−8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P < 10−8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock

Assembling place : Buenos Aires in cultural production (1920-1935)

textIn works of cultural production, interpretations of the built, natural, and social environment engage a hierarchy of readings of place. Formed by a totality of interpretations—accepted/unaccepted, dominant/subordinate, normal/abnormal, and everything in between—this hierarchy of readings frames place as a social understanding. Interpretations of place, therefore, are social positionings: kinds of individual delineations of the meaning of place as a social understanding. Collectively, these social positionings compose and comprise our understanding of the meaning of a place. In this study, I examine the different ways in which the understanding of Buenos Aires as a place shapes and is shaped by the avant-garde urban criollismo of Jorge Luis Borges’ poetry of the 1920s, the five plays of Armando Discépolo’s dramatic genre of the grotesco criollo, Robert Arlt’s dark and portentous binary novel Los siete locos/ Los lanzallamas (1929/1931), and three early Argentine sound films [Tango! (Mogila Barth 1933), Los tres berretines (Equipo Lumiton 1933), and Riachuelo (Moglia Barth 1934)]. To get at the mechanisms that drive the interaction between these works of cultural production, which are social positionings, and the social understanding of Buenos Aires as a place, I draw from Manuel De Landa’s notions of assemblage theory and non-linear history. Wholes such as porteño society of the 1920s and 1930s are assemblages of an almost limitless number of parts whose functions within the greater entity are not always clear. Place, therefore, is an assemblage whose meaning is made up of indeterminable interpretations of space. It is also a non-linear social understanding in that its meaning is irreducible to its components (i.e. social positionings). The mutual interactions and feedback within assemblages such as Buenos Aires are indicative of how meaning is ever changing through processes of destratification, restratification, and stratification in its components, including Borges’ early poetry, Discépolo’s grotesco criollo, Arlt’s Los siete locos/ Los lanzallamas, and the films Tango!, Los tres berretines, and Riachuelo.Spanish and Portugues