HGVS Nomenclature 2024: improvements to community engagement, usability, and computability.

Background: The Human Genome Variation Society (HGVS) Nomenclature is the global standard for describing and communicating variants in DNA, RNA, and protein sequences in clinical and research genomics. This manuscript details recent updates to the HGVS Nomenclature, highlighting improvements in governance, community engagement, website functionality, and underlying implementation of the standard.

Methods: The HGVS Variant Nomenclature Committee (HVNC) now operates under the Human Genome Organization (HUGO), facilitating broader community feedback and collaboration with related standards organizations.

Particulate air pollution at the time of oocyte retrieval is independently associated with reduced odds of live birth in subsequent frozen embryo transfers.

Study Question: Does exposure to particulate matter (PM) air pollution prior to oocyte retrieval or subsequent frozen embryo transfer (FET) affect the odds of live birth?

Summary Answer: Live birth rates are lower when particulate matter (PM2.5 and PM10) levels are higher prior to oocyte retrieval, regardless of the conditions at the time of embryo transfer.

What Is Known Already: Exposure to air pollution is associated with adverse reproductive outcomes, including reduced fecundity and ovarian reserve, and an increased risk of infertility and pregnancy loss.

Are assisted reproductive technology pregnancies more likely to be exposed to teratogenic medication? A whole-population study.

Background: Assisted reproductive technology (ART) pregnancies are at greater risk of birth defects than non-ART pregnancies. Teratogenic medication exposure is a potential cause of birth defects that has not been compared between ART and non-ART pregnancies.

Aims: To determine whether the prevalence of exposure to teratogenic medicines during pregnancy varies by conception method (ART and three non-ART groups: ovulation induction (OI), subfertile untreated, and fertile naturally conceiving).

Dementia Risk and Social Determinants of Health Among Adults Racialized as Black: A Community-Based System Dynamics Perspective.

Background: The aging population in the USA is projected to increase significantly, with a corresponding rise in dementia cases, particularly among racial minorities. This study examines the key drivers of racial disparities in dementia risk among older Black adults in the St. Louis area, a region characterized by entrenched structural racism.

School Starting Age, Fertility, and Family Formation: Evidence From the School Entry Cutoff Using Exact Date of Birth.

In the past 50 years, the age at first birth in Norway and other European countries has shifted, leading to concerns that individuals begin childbearing too late to reach their intended family size. This article analyzes the effect of school starting age on fertility and family formation by utilizing Norway's age-based school entry policy. Using individual-level register data and a regression discontinuity design, we find that being born after the age cutoff for school start results in an increased age at first birth of 2.