Studies of the genetics of psychiatric disorders have become one of the most exciting and
fast-moving areas in human genetics. A decade ago, there were few reproducible findings …

A major contribution to the genome variability among individuals comes from deletions and
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …

Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the
elderly, with limited therapeutic options. Here we report on a study of> 12 million variants …

INTRODUCTION Large-scale genetic studies of integrated health care populations, with
phenotypic data captured natively in the documentation of clinical care, have the potential to …

Despite the extensive discovery of trait-and disease-associated common variants, much of
the genetic contribution to complex traits remains unexplained. Rare variants can explain …

A common method of minimizing errors in large DNA sequence data sets is to drop variable
sites with a minor allele frequency (MAF) below some specified threshold. Although …

Through characterising the geographic and functional spectrum of human genetic variation,
the 1000 Genomes Project aims to build a resource to help understand the genetic …

Melatonin receptors are seven transmembrane‐spanning proteins belonging to the GPCR
superfamily. In mammals, two melatonin receptor subtypes exist‐MT1 and MT2‐encoded by …

Genomics is a relatively new scientific discipline, having DNA sequencing as its core
technology. As technology has improved the cost and scale of genome characterization over …

We report on the sequencing of 10,545 human genomes at 30×–40× coverage with an
emphasis on quality metrics and novel variant and sequence discovery. We find that 84% of …