UStar Genetic Discovery News

An integrated map of structural variation in 2,504 human genomes Structural variants are implicated in numerous diseases and make up the majority of varying nucleotides among human genomes. Here we describe an integrated set of eight structural variant classes comprising both balanced and unbalanced variants, which we constructed using short-read DNA sequencing data and statistically…

Gabor Marth

My research focuses on development of DNA sequence analysis software. Over the past 15 years, my group has developed software to aid genome sequence completion (finishing), for single-nucleotide polymorphism discovery, for population genetic analysis of genomic variation data. We have developed software packages for base calling, read mapping, variant discovery, and data visualization in high-throughput,…