The variant call format (VCF) is a generic format for storing DNA polymorphism data such as
SNPs, insertions, deletions and structural variants, together with rich annotations. VCF is …

Genome-sequencing studies indicate that all humans carry many genetic variants predicted
to cause loss of function (LoF) of protein-coding genes, suggesting unexpected redundancy …

Characterizing the multifaceted contribution of genetic and epigenetic factors to disease
phenotypes is a major challenge in human genetics and medicine. We carried out high-…

Small insertions and deletions (indels) are a common and functionally important type of
sequence polymorphism. Most of the focus of studies of sequence variation is on single …

The exon-junction complex (EJC) performs essential RNA processing tasks 1, 2, 3, 4, 5. Here,
we describe the first human disorder, thrombocytopenia with absent radii (TAR) 6, caused …

Anaemia is a chief determinant of global ill health, contributing to cognitive impairment,
growth retardation and impaired physical capacity. To understand further the genetic factors …

Gray platelet syndrome (GPS) is a predominantly recessive platelet disorder that is
characterized by mild thrombocytopenia with large platelets and a paucity of α-granules; these …

Short insertions and deletions (indels) are the second most abundant form of human genetic
variation, but our understanding of their origins and functional effects lags behind that of …

Neurons derived from human induced Pluripotent Stem Cells (hiPSCs) provide a promising
new tool for studying neurological disorders. In the past decade, many protocols for …

Background During early embryonic development, one of the two X chromosomes in mammalian
female cells is inactivated to compensate for a potential imbalance in transcript levels …