Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood.

Mosaic loss of Y (mLOY) is the most common somatic chromosomal alteration detected in human blood. The presence of mLOY is associated with altered blood cell counts and increased risk of Alzheimer disease, solid tumors, and other age-related diseases. We sought to gain a better understanding of genetic drivers and associated phenotypes of mLOY through analyses of whole-genome sequencing (WGS) of a large set of genetically diverse males from the Trans-Omics for Precision Medicine (TOPMed) program.

Negative binomial mixture model for identification of noise in antibody-antigen specificity predictions from single-cell data.

Motivation: LIBRA-seq (linking B cell receptor to antigen specificity by sequencing) provides a powerful tool for interrogating the antigen-specific B cell compartment and identifying antibodies against antigen targets of interest. Identification of noise in single-cell B cell receptor sequencing data, such as LIBRA-seq, is critical for improving antigen binding predictions for downstream applications including antibody discovery and machine learning technologies.

Results: In this study, we present a method for denoising LIBRA-seq data by clustering antigen counts into signal and noise components with a negative binomial mixture model.

Inflammation as a Potential Mechanism Contributing to Sexual Functioning Following Initiation of Gender-Affirming Hormone Therapy.

Purpose Of Review: Many transgender and gender non-conforming (TGNC) people seek gender-affirming hormone therapy (GAHT). While GAHT is generally safe and increases well-being, it is essential to accurately understand potential unintended effects and risk factors to better inform and manage treatment. This narrative review covers recent literature documenting changes in sexual function following the initiation of GAHT and explores inflammation as a potential mediator of these changes.

Cardiovascular Risk Factors and Genetic Risk in Transthyretin V142I Carriers.

Background: Nearly 3% to 4% of Black individuals in the United States carry the transthyretin V142I variant, which increases their risk of heart failure. However, the role of cardiovascular (CV) risk factors (RFs) in influencing the risk of clinical outcomes among V142I variant carriers is unknown.

Objectives: This study aimed to assess the impact of CV RFs on the risk of heart failure in V142I carriers.