Center for Genomic Science

UK consensus recommendations for onward testing for Lynch syndrome in patients with deficient mismatch repair (dMMR) non-colorectal/non-endometrial cancers

Accepted: 2026) UK consensus recommendations for onward testing for Lynch Syndrome in patients

Circulating biomarkers in the diagnosis and management of neuroendocrine neoplasms

Abstract Neuroendocrine neoplasms (NENs) comprise a broad family of tumours arising from the diffuse neuroendocrine system and endocrine glands, and vary widely in clinical behaviour ranging from indolent to highly aggressive. Established monoanalyte biomarkers including chromogr...

International variation in neuropsychological test use practices: Implications for test adaptation and fair assessment

Neuropsychological test selection varies substantially across countries and languages, yet which instruments clinicians use internationally remains poorly documented. Using a survey of International Neuropsychological Society members (INSConnect, 2023), we examined instrument end...

Two domesticated species of rice shaped the population structure of Xanthomonas oryzae pv. oryzae in Africa

African rice ( Oryza glaberrima ) was independently domesticated in West Africa around 3000 years ago, and has long been intertwined in the history of the region. Asian rice ( Oryza sativa ), which was introduced in Africa when European settlers arrived, gradually replaced Africa...

Association for Clinical Genomic Science (ACGS) Best Practice Guidelines for Variant Classification in Rare Disease

Revised ACGS variant classification guidelines 2026.

Complementary vertebrate Wac models exhibit phenotypes relevant to DeSanto-Shinawi Syndrome

Monogenic syndromes are associated with neurodevelopmental changes that result in cognitive impairments and neurobehavioral phenotypes, including autism and seizures. Limited studies and resources are available to make meaningful headway into the underlying molecular mechanisms t...

The urinary tract commensal Peptoniphilus spp. encodes a novel 17β-hydroxysteroid dehydrogenase

ABSTRACT Microbial steroid metabolism represents an underappreciated extension of the vertebrate endocrine system, with growing evidence that host-associated microbes contribute to the diversity and bioavailability of sex steroids to human tissues. Emerging studies have linked mi...

Platelet Reactivity and Sex Differences: Clinical Implications for Women

Platelets are central to hemostasis and thrombosis. Excessive platelet activation contributes to arterial thrombotic events, including myocardial infarction, ischemic stroke, and complications of peripheral artery disease, whereas excessive platelet inhibition increases bleeding...

Using cell‐free RNA to identify B‐ and T‐cell clonality for diagnosis and monitoring of B‐ and T‐cell neoplasms

Cell‐free RNA (cfRNA) is emerging as a supplemental approach for liquid biopsy (LBx). Given that lymphoid cells and plasma cells express substantial quantities of immunoglobulin (Ig) and T‐cell receptor (TCR) RNA, we investigated the utility of using cfRNA for detecting B‐cell an...