Despite advances in clinical genetic testing, including the introduction of exome sequencing
(ES), more than 50% of individuals with a suspected Mendelian condition lack a precise …

Despite being collectively among the most frequent congenital developmental conditions
worldwide, differences of sex development (DSD) lack recognition and research funding. As …

Genome sequence assemblies provide the basis for our understanding of biology.
Generating error-free assemblies is therefore the ultimate, but sadly still unachieved goal of …

Chromosomal aberrations including structural variations (SVs) are a major cause of human
genetic diseases. Their detection in clinical routine still relies on standard cytogenetics …

Virtually all genome sequencing efforts in national biobanks, complex and Mendelian
disease programs, and medical genetic initiatives are reliant upon short-read whole …

Somatic structural variants (SVs) are important drivers of cancer development and
progression. In a diagnostic set-up, especially for hematological malignancies, the …

The biomedical research community addresses reproducibility challenges in animal studies
through standardized nomenclature, improved experimental design, transparent reporting …

Simple Summary The stratification of childhood ALL is currently based on various diagnostic
assays. This study investigates the feasibility of Optical Genome Mapping (OGM) to …

This study compares optical genome mapping (OGM) performed at multiple sites with
current standard-of-care (SOC) methods used in clinical cytogenetics. This study included …

Purpose: Patients with rare or ultra-rare genetic diseases, which affect 350 million people
worldwide, may experience a diagnostic odyssey. High-throughput sequencing leads to an …