Small variant benchmark from a complete assembly of X and Y chromosomes.

The sex chromosomes contain complex, important genes impacting medical phenotypes, but differ from the autosomes in their ploidy and large repetitive regions. To enable technology developers along with research and clinical laboratories to evaluate variant detection on male sex chromosomes X and Y, we create a small variant benchmark set with 111,725 variants for the Genome in a Bottle HG002 reference material. We develop an active evaluation approach to demonstrate the benchmark set reliably identifies errors in challenging genomic regions and across short and long read callsets.

Doxycycline post-exposure prophylaxis for preventing bacterial sexually transmitted infections (STIs): Are clinical providers supportive?

Background: Bacterial sexually transmitted infections (STIs) continue to increase in the United States. Despite evidence of the effectiveness of doxycycline post-exposure prophylaxis (Doxy-PEP) to prevent STIs, little is known about providers' attitudes and willingness to implement Doxy-PEP.

Methods: An online questionnaire was sent to 575 clinical providers in New York State in September 2022.

Primary Care Screening for Nonalcoholic Fatty Liver Disease Among People With HIV in the United States: A Real-World Provider Survey.

Nonalcoholic fatty liver disease (NAFLD) is highly prevalent in people with HIV (PWH) and increases the risk of hepatic fibrosis and hepatocellular carcinoma. We sent an online survey to providers of the American Academy of HIV Medicine. Of respondents (n = 214, 8% response rate), 65% reported screening for NAFLD in PWH, with 28% routinely screening all patients.

Tenofovir-associated Fanconi syndrome in liver transplant recipients with hepatitis B: A retrospective case series.

Tenofovir-associated Fanconi syndrome (TAFS) is a proximal renal tubule disorder rarely reported in patients after liver transplantation (LT) for hepatitis B (HBV). In a retrospective review of 79 HBV-LT recipients, 8/66 (12.1%) on tenofovir post-LT developed TAFS.

Centering autonomy and choice to support oral PrEP utilization among people who inject drugs: qualitative lessons from HPTN 094 INTEGRA.

Background: Oral Pre-exposure prophylaxis (PrEP) is effective in preventing HIV transmission. However, despite high rates of HIV risk behaviors among people who inject drugs (PWID), this population remains underserved by current HIV prevention efforts in the United States. To address this challenge, we conducted an in-depth exploration of perspectives on using oral PrEP among PWID engaged in the HIV Prevention Trials Network (HPTN) 094 INTEGRA Study.