Human genomics

BACKGROUND: Endometriosis (EMs) is a prevalent gynecologic disorder that often causes severe chronic pelvic pain and infertility. Although genome-wide association studies have identified common variants of EMs, the contribution of rare vari…

BACKGROUND: The causal bridge from environmental exposure to endometriosis (Ems) biology remains incompletely defined. Di(2-ethylhexyl) phthalate (DEHP) is repeatedly implicated in elevated Ems risk, yet actionable molecular anchors linking…

Long COVID or Post-Acute Sequelae of SARS-CoV-2 Infection (PASC), marked by persistent symptoms lasting weeks to months after acute SARS-CoV-2 infection, affects multiple organ systems including the respiratory, cardiovascular, neurological…

Female adnexal malignancies, while relatively uncommon, exhibit high mortality rates due to often-late diagnosis. The serine/threonine kinase 11 (STK11) is a tumor suppressor gene, and its inactivation or mutation often leads to an autosoma…

BackgroundGlobal fertility decline has led to increased use of assisted reproductive technology (ART), raising concerns about genetic risks to offspring. This study aimed to investigate cystic fibrosis transmembrane conductance regulator (C…

BACKGROUND: Endometriosis is a common, chronic disease among fertile-aged women. Disease course may be highly invasive, requiring extensive surgery. The etiology of endometriosis remains elusive, though a high level of heritability is well …

BackgroundCBL syndrome is a RASopathy caused by heterozygous germline mutations of the Casitas B-lineage lymphoma (CBL) gene. It is characterized by heterogeneous clinical phenotype, including developmental delay, facial dysmorphisms, cardi…

OBJECTIVE: To determine if genetic polymorphism of VEGF is associated with the development of endometriosis in Nigerian women. STUDY DESIGN: Case control study of 100 women (50 healthy controls and 50 with endometriosis). Serum VEGF concent…

O1 The metabolomics approach to autism: identification of biomarkers for early detection of autism spectrum disorder A. K. Srivastava, Y. Wang, R. Huang, C. Skinner, T. Thompson, L. Pollard, T. Wood, F. Luo, R. Stevenson O2 Phenome-wide ass…

The recent publication of the draft genome sequences of the Neanderthal and a ∼50,000-year-old archaic hominin from Denisova Cave in southern Siberia has ushered in a new age in molecular archaeology. We previously cross-compared the human,…