481 citations · 483 across the 2 of their papers we have counts for
2 papers
q-bio.GN2013★ 481 cited
GEMINI: integrative exploration of genetic variation and genome annotations
Uma Paila, Brad Chapman, Rory Kirchner +1
Modern DNA sequencing technologies enable geneticists to rapidly identify genetic variation among many human genomes. However, isolating the minority of variants underlying disease…
q-bio.GN2012★ 2 cited
LUMPY: A probabilistic framework for structural variant discovery
Ryan M. Layer, Ira M. Hall, Aaron R. Quinlan
Comprehensive discovery of structural variation (SV) in human genomes from DNA sequencing requires the integration of multiple alignment signals including read-pair, split-read and…