Inversions, deletions and insertions are important mediators of disease and disease
susceptibility. We systematically compared the human genome reference sequence with a …

Understanding the prevailing mutational mechanisms responsible for human genome
structural variation requires uniformity in the discovery of allelic variants and precision in …

Variability in the human genome has far exceeded expectations. In the course of the past
three years, we have learned that much of our naturally occurring genetic variation consists …

Deciphering the genetic basis of human disease requires a comprehensive knowledge of
genetic variants irrespective of their class or frequency. Although an impressive number of …

Small insertions and deletions (indels) and large structural variations (SVs) are major
contributors to human genetic diversity and disease. However, mutation rates and …

Structural variation (SV) represents a major source of differences between individual human
genomes and has been linked to disease phenotypes. However, the majority of studies …

Accurate and complete analysis of genome variation in large populations will be required to
understand the role of genome variation in complex disease. We present an analytical …

The first wave of information from the analysis of the human genome revealed SNPs to be
the main source of genetic and phenotypic human variation. However, the advent of genome …

Numerous types of DNA variation exist, ranging from SNPs to larger structural alterations
such as copy number variants (CNVs) and inversions. Alignment of DNA sequence from …

Complete knowledge of the genetic variation in individual human genomes is a crucial
foundation for understanding the etiology of disease. Genetic variation is typically …