Background: Despite the recent success of genome-wide association studies in identifying novel loci contributing effects to complex human traits, such as type 2 diabetes and obesi...
Background: Both somatic copy number alterations (CNAs) and germline copy number variants (CNVs) that are prevalent in healthy individuals can appear as recurrent changes in compa...
Background: Single nucleotide polymorphisms (SNPs) are the most common genetic variations in the human genome and are useful as genomic markers. Oligonucleotide SNP microarrays ha...
Cheng Li, Rameen Beroukhim, Barbara A. Weir, Wendy...
Background: Detection of adaptive amino acid changes in proteins under recent short-term selection is of great interest for researchers studying microevolutionary processes in mic...
Sujay Chattopadhyay, Daniel E. Dykhuizen, Evgeni V...
Background: Genome-wide association studies of common diseases for common, low penetrance causal variants are underway. A proportion of these will alter protein sequences, the mos...
David F. Burke, Catherine L. Worth, Eva-Maria Prie...