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GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations
2013
PLoS Computational Biology
Modern DNA sequencing technologies enable geneticists to rapidly identify genetic variation among many human genomes. However, isolating the minority of variants underlying disease remains an important, yet formidable challenge for medical genetics. We have developed GEMINI (GEnome MINIng), a flexible software package for exploring all forms of human genetic variation. Unlike existing tools, GEMINI integrates genetic variation with a diverse and flexible set of genome annotations (e.g., dbSNP,
doi:10.1371/journal.pcbi.1003153
pmid:23874191
pmcid:PMC3715403
fatcat:lae4evkav5c4ren6y7cttlekye