Complex genomic rearrangements (CGRs) are known contributors to disease but are often
missed during routine genetic screening. Identifying CGRs requires (i) identifying copy …

The path to completion of the functional annotation of the haploid human genome reference
build, exploration of the clan genomics hypothesis, understanding human gene and genome …

Neurodevelopmental disorders (NDDs) are clinically and genetically heterogenous; many
such disorders are secondary to perturbation in brain development and/or function. The …

Understanding how microbial pathogens adapt to treatments, humans and clinical
environments is key to infer mechanisms of virulence, transmission and drug resistance …

Clinical characterization of a patient phenotype has been the quintessential approach for
elucidating a differential diagnosis and a hypothesis to explore a potential clinical diagnosis …

G-quadruplex (G4)–prone structures are abundant in mammalian genomes, where they
have been shown to influence DNA replication, transcription, and genome stability. In this …

Cytogenetically detected inversions are generally assumed to be copy number and
phenotypically neutral events. While nonallelic homologous recombination is thought to play …

Xq22 deletions that encompass PLP1 (Xq22‐PLP1‐DEL) are notable for variable
expressivity of neurological disease traits in females ranging from a mild late‐onset form of …

Introduction The human genome contains the instructions for the development and
biological homeostasis of the human organism and the genetic transmission of traits …

Severe insulin resistance syndromes result from primary insulin signaling defects, adipose
tissue abnormalities or other complex syndromes. Mutations in TBC1D4 lead to partial …