Background: The enormous throughput and low cost of second-generation sequencing platforms now allow research and clinical geneticists to routinely perform single experiments that...
Amol Carl Shetty, Prashanth Athri, Kajari Mondal, ...
Background: Recent studies have shown that copy number variations (CNVs) are frequent in higher eukaryotes and associated with a substantial portion of inherited and acquired risk...
Xiaowu Gai, Juan C. Perin, Kevin Murphy, Ryan O'Ha...
Background: Subtle alternative splicing events involving tandem splice sites separated by a short (2-12 nucleotides) distance are frequent and evolutionarily widespread in eukaryo...
Background: The conservation of gene order among prokaryotic genomes can provide valuable insight into gene function, protein interactions, or events by which genomes have evolved...
Christine Fong, Laurence Rohmer, Matthew Radey, Mi...
Background: The advent of genotype data from large-scale efforts that catalog the genetic variants of different populations have given rise to new avenues for multifactorial disea...
Chun Meng Song, Boon Huat Yeo, Erwin Tantoso, Yuch...