Copy number variants (CNVs) are among the largest genetic variants, yet CNVs have not
been effectively ascertained in most genetic association studies. Here we ascertained …

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 …

Assembling a comprehensive catalog of common human sequence polymorphisms is a key
goal of the Human Genome Project. The International SNP Map Working Group has …

The locations and properties of common deletion variants in the human genome are largely
unknown. We describe a systematic method for using dense SNP genotype data to discover …

Large-scale reference data sets of human genetic variation are critical for the medical and
functional interpretation of DNA sequence changes. Here we describe the aggregation and …

Data on replacement mutations in genes of disease patients exist in a variety of online
resources. In addition, genome sequencing projects and individual gene sequencing efforts …

The frequencies of individual nucleotides exhibit significant fluctuations across eukaryotic
genes. In this paper, we investigate nucleotide variation across an averaged representation …

Progress in understanding the genetics of human disease is closely tied to technological
developments in DNA sequencing. Recently, next-generation technology has transformed …

The rate of single-nucleotide polymorphism varies substantially across the human genome
and fundamentally influences evolution and incidence of genetic disease. Previous studies …

Recent advances in fast and inexpensive DNA sequencing have enabled the extensive
study of genomic and transcriptomic variation in humans. Human genomic variation is …