We report the sequences of 1,244 human Y chromosomes randomly ascertained from 26
worldwide populations by the 1000 Genomes Project. We discovered more than 65,000 …

Background Human genome sequencing has transformed our understanding of genomic
variation and its relevance to health and disease, and is now starting to enter clinical practice …

Congenital heart defects (CHDs) have a neonatal incidence of 0.8–1% (refs. 1 , 2 ). Despite
abundant examples of monogenic CHD in humans and mice, CHD has a low absolute …

Purpose Given the rapid pace of discovery in rare disease genomics, it is likely that improvements
in diagnostic yield can be made by systematically reanalyzing previously generated …

Histone lysine methyltransferases (KMTs) and demethylases (KDMs) underpin gene regulation.
Here we demonstrate that variants causing haploinsufficiency of KMTs and KDMs are …

The development of technologies that allow the stable delivery of large genomic DNA
fragments in mammalian systems is important for genetic studies as well as for applications in …

Discovery of most autosomal recessive disease-associated genes has involved analysis of
large, often consanguineous multiplex families or small cohorts of unrelated individuals with …

Optical Coherence Tomography (OCT) enables non-invasive imaging of the retina and is
used to diagnose and manage ophthalmic diseases including glaucoma. We present the first …

Mosaic genetic variants can have major clinical impact. We systematically analyse trio
exome sequence data from 4,293 probands from the DDD Study with severe developmental …

Purpose To describe and compare associations with macular retinal nerve fiber layer (mRNFL),
ganglion cell complex (GCC), and ganglion cell–inner plexiform layer (GCIPL) …