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

Genetic sequencing technologies are evolving at a rapid pace with major implications for
research and clinical practice. In this review, the authors provide an updated overview of …

New technologies and analysis methods are enabling genomic structural variants (SVs) to
be detected with ever-increasing accuracy, resolution and comprehensiveness. To help …

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 …

Clinical Next-Generation Sequencing—A Wild Frontier The technologies and chemistries
underlying next-generation sequencing of DNA are evolving rapidly. This review describes …

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 …

Abstract β-thalassemias (β-thal) are a group of blood disorders caused by mutations in the β-
globin gene (HBB) cluster. β-globin associates with α-globin to form adult hemoglobin (HbA …

Cytogenetics has long represented a critical component in the clinical evaluation of
hematologic malignancies. Chromosome banding studies provide a simultaneous snapshot …