Purpose With growing evidence that rare single gene disorders present in the neonatal period,
there is a need for rapid, systematic, and comprehensive genomic diagnoses in ICUs to …

Background Studies have shown that complex structural variants (cxSVs) contribute to human
genomic variation and can cause Mendelian disease. We aimed to identify cxSVs relevant …

We present a draft sequence of the genome of Aedes aegypti, the primary vector for yellow
fever and dengue fever, which at ∼1376 million base pairs is about 5 times the size of the …

Many common variants have been associated with hematological traits, but identification of
causal genes and pathways has proven challenging. We performed a genome-wide …

The ArrayExpress Archive of Functional Genomics Data ( http://www.ebi.ac.uk/arrayexpress
) is an international functional genomics database at the European Bioinformatics Institute (…

Most patients with rare diseases do not receive a molecular diagnosis and the aetiological
variants and causative genes for more than half such disorders remain to be discovered 1 . …

Blood cells play essential roles in human health, underpinning physiological processes
such as immunity, oxygen transport, and clotting, which when perturbed cause a significant …

Inherited retinal disease is a common cause of visual impairment and represents a highly
heterogeneous group of conditions. Here, we present findings from a cohort of 722 individuals …

Tsetse flies are the sole vectors of human African trypanosomiasis throughout sub-Saharan
Africa. Both sexes of adult tsetse feed exclusively on blood and contribute to disease …

Background The genetic cause of primary immunodeficiency disease (PID) carries prognostic
information. Objective We conducted a whole-genome sequencing study assessing a …