Identifying structural variation (SV) is essential for genome interpretation but has been
historically difficult due to limitations inherent to available genome technologies. Detection …

Genomic technologies, such as targeted, exome and short-read genome sequencing
approaches, have revolutionized the care of patients with rare genetic diseases. However …

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

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

Recent advances in optical mapping have allowed the construction of improved genome
assemblies with greater contiguity. Optical mapping also enables genome comparison and …

Epigenetic changes in DNA methylation contribute to the development of many diseases,
including cancer. In glioblastoma multiforme, the most prevalent primary brain cancer and …

Nanofluidic structures have over the last two decades emerged as a powerful platform for
detailed analysis of DNA on the kilobase pair length scale. When DNA is confined to a …

Genetic diagnosis of facioscapulohumeral muscular dystrophy (FSHD) remains a challenge
in clinical practice as it cannot be detected by standard sequencing methods despite being …

The human genome contains multiple layers of information that extend beyond the genetic
sequence. In fact, identical genetics do not necessarily yield identical phenotypes as evident …

Nucleic acids are important biomarkers for disease detection, monitoring, and treatment.
Advances in technologies for nucleic acid analysis have enabled discovery and clinical …