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 …

Background Cancers arise from multiple acquired mutations, which presumably occur over
many years. Early stages in cancer development might be present years before cancers …

Structural variants are implicated in numerous diseases and make up the majority of varying
nucleotides among human genomes. Here we describe an integrated set of eight structural …

Schizophrenia is a heritable brain illness with unknown pathogenic mechanisms.
Schizophrenia’s strongest genetic association at a population level involves variation in the major …

Phytophthora infestans is the most destructive pathogen of potato and a model organism for
the oomycetes, a distinct lineage of fungus-like eukaryotes that are related to organisms …

The interpretation of genome-wide association results is confounded by linkage disequilibrium
between nearby alleles. We have developed a flexible bioinformatics query tool for single-…

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 …

Genomic structural variants (SVs) are abundant in humans, differing from other forms of
variation in extent, origin and functional impact. Despite progress in SV characterization, the …

The incomplete identification of structural variants (SVs) from whole-genome sequencing
data limits studies of human genetic diversity and disease association. Here, we apply a suite …

Sequencing of gene-coding regions (the exome) is increasingly used for studying human
disease, for which copy-number variants (CNVs) are a critical genetic component. However, …