Detection of germline CNVs from gene panel data: benchmarking the state of the art.

Germline copy number variants (CNVs) play a significant role in hereditary diseases. However, the accurate detection of CNVs from targeted next-generation sequencing (NGS) gene panel data remains a challenging task. Several tools for calling CNVs within this context have been published to date, but the available benchmarks suffer from limitations, including testing on simulated data, testing on small datasets, and testing a small subset of published tools.

Ending AIDS as a public health threat: the imperative for clear messaging on U=U, viral suppression, and zero risk.

To end AIDS as a public health threat by 2030, we must leverage both the impactful message of U=U (undetectable equals untransmittable) and viral suppression to improve the wellbeing of individuals living with HIV, increase engagement with HIV services, and reduce barriers such as stigma, discrimination, and criminalisation. This message requires clear and unambiguous evidence-based narratives that emphasise the message that there is zero risk of sexual transmission when an undetectable viral load is maintained and negligible risk when viral suppression (as defined by 200-1000 copies per mL) is maintained. Dissemination of this information to individuals living with or affected by HIV, health-care workers, communities, the general public, and policy makers will increase awareness and credibility of this message and challenge deep-seated misperceptions.

Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.

Purpose: Pathogenic LZTR1 variants cause schwannomatosis and dominant/recessive Noonan syndrome (NS). We aim to establish an association between heterozygous loss-of-function LZTR1 alleles and isolated multiple café-au-lait macules (CaLMs).

Methods: A total of 849 unrelated participants with multiple CaLMs, lacking pathogenic/likely pathogenic NF1 and SPRED1 variants, underwent RASopathy gene panel sequencing.

Community contexts and knowledge: accountability, leadership and meaningful involvement of communities in Programme Science.

Introduction: A Programme Science approach that prioritizes populations who will benefit most and ensuring resources are allocated to programmes that meet the needs of those populations will bring an equity focus to research. Gay men and other men who have sex with men, people who use drugs, sex workers of all genders, and trans and gender-diverse people, defined by the Joint United Nations Programme on HIV/AIDS (UNAIDS) and The Global Fund to Fight AIDS, Tuberculosis and Malaria (Global Fund) as key populations, have been disproportionately impacted since the start of the HIV pandemic. Through documenting community experiences from global key population-led networks, the authors explore the potential value and impact of community-led organizations and service delivery as critical components in effective HIV and Sexually Transmitted infections (STI) programmes.