POSITIONING WHOLE EXOME SEQUENCING IN THE DIAGNOSTIC PATHWAY FOR RARE DISEASE TO OPTIMISE UTILITY: A PROTOCOL FOR AN OBSERVATIONAL COHORT STUDY AND AN ECONOMIC EVALUATION

Positioning whole exome sequencing in the diagnostic pathway for rare disease to optimise utility: a protocol for an observational cohort study and an economic evaluation

Introduction Despite the superior diagnostic performance of exome and genome sequencing compared with conventional genetic tests, evidence gaps related to clinical utility and cost effectiveness have limited their availability in routine clinical read more practice in many jurisdictions.To inform adoption and reimbursement policy, this protocol pro

read more

In the mood: the dynamics of collective sentiments on Twitter

We study the relationship between the sentiment levels of Twitter users and the evolving network structure that the users created by @-mentioning each other.We use a large dataset of tweets to which we apply three sentiment scoring algorithms, including ilootpaperie the open source SentiStrength program.Specifically we make three contributions.Firs

read more


Effectiveness of interventions aimed at reducing HIV acquisition and transmission among gay and bisexual men who have sex with men (GBMSM) in high income settings: A systematic review.

IntroductionHIV transmission continues among gay and bisexual men who have sex with men (GBMSM), with those who are younger, or recent migrants, or of minority ethnicity or who are gender diverse remaining at increased risk.We aimed to identify and describe recent studies evaluating the effectiveness of HIV prevention interventions for GBMSM in hig

read more