Up to 350 million people worldwide suffer from a rare disease, and while the individual
diseases are rare, in aggregate they represent a substantial challenge to global health …

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

Here, we describe single-tube long fragment read (stLFR), a technology that enables
sequencing of data from long DNA molecules using economical second-generation …

Introduction: In 2004, the implementation of array comparative genomic hybridization (array
comparative genome hybridization [CGH]) into clinical practice marked a new milestone for …

In recent years, optical genome mapping (OGM) has developed into a highly promising
method of detecting large-scale structural variants in human genomes. It is capable of …

Purpose Emerging studies suggest that low-pass genome sequencing (GS) provides
additional diagnostic yield of clinically significant copy-number variants (CNVs) compared …

Chromosomal mosaicism is at high occurrence in early developmental-stage embryos, but
much lower in those at prenatal stage. Recent studies provided evidence on the viability of …

Background Chromosomal rearrangements have profound consequences in diverse human
genetic diseases. Currently, the detection of balanced chromosomal rearrangements …

Recurrent miscarriage (RM) affects millions of couples globally, and half of them have no
demonstrated etiology. Genome sequencing (GS) is an enhanced and novel cytogenetic …

Background: Increased nuchal translucency (NT) is an important biomarker associated with
increased risk of fetal structural anomalies. It is known to be contributed by a wide range of …