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 …

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 …

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 …

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

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

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

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 …

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 …

As technology advances, whole genome sequencing (WGS) is likely to supersede other
genotyping technologies. The rate of this change depends on its relative cost and utility. …