Bionano Genomics, Inc. (Nasdaq: BNGO) today announced that studies featuring optical genome mapping (OGM) at the 2026 European Society of Human Genetics (ESHG) ...

Bionano Genomics, Inc. (Nasdaq: BNGO) today announced that studies featuring optical genome mapping (OGM) at the 2026 European Society of Human Genetics (ESHG) conference grew substantially compared ...

Background Wolf–Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome involving variable size deletions of the 4p16.3 region. Seizures are frequently, but not always, associated with WHS.

Albert Luderer: Thank you, Webb, and good afternoon, everyone. I'm pleased to be here with you all today. Now before I share an update on our first quarter, I want to address the recent leadership ...

Congenital heart disease is the most common birth defect, and because of major advances in medical and surgical management, there are now more adults living with congenital heart disease (CHD) than ...

1 Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands 2 Department of Clinical Genetics, University Medical ...

Microarrays have been the mainstay for detecting clinically relevant copy number variants (CNV) in patients. Whole genome sequencing (WGS) has the potential to ...

Copy number variations (CNVs) significantly influence the diversity of the human genome and the occurrence of many complex diseases. The next-generation sequencing (NGS) technology provides rich data ...

jDepartment of Pharmacology, University of Toronto, Toronto, Ontario, Canada kToronto Congenital Cardiac Centre for Adults, and Division of Cardiology, Department of Medicine, University Health ...

Background: Genetic tests for primary immunodeficiency disorders (PIDs) are expensive, time-consuming, and not easily accessible in developing countries. Therefore, we studied the feasibility of a ...

Open Health Imaging Foundation Viewer: An Extensible Open-Source Framework for Building Web-Based Imaging Applications to Support Cancer Research Allele-specific copy number alteration (CNA) analysis ...