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 ...

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 provide far higher resolution of CNV ...

Objectives: Copy number variant (CNV) is believed to be the potential genetic cause of pregnancy loss. However, CNVs less than 3 Mb in euploid products of conceptions (POCs) remain largely unexplored.

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 ...

Chromosomal microarray (CMA) testing, used to identify DNA copy number variations (CNVs), has helped advance knowledge about genetics of human neurodevelopmental disease and congenital anomalies. It ...

Autism spectrum disorders have been estimated to affect as many as 1 in 100 to 1 in 150 children. 4,5 Disorders on the autism spectrum share features of impaired social relationships, impaired ...