GEMINI: a flexible framework for exploring genome variation

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Overview

GEMINI (GEnome MINIng) is designed to be a flexible framework for exploring genetic variation in the context of the wealth of genome annotations available for the human genome. By placing genetic variants, sample genotypes, and useful genome annotations into an integrated database framework, GEMINI provides a simple, flexible, yet very powerful system for exploring genetic variation for disease and population genetics.

Using the GEMINI framework begins by loading a VCF file (and an optional PED file) into a database. Each variant is automatically annotated by comparing it to several genome annotations from source such as ENCODE tracks, UCSC tracks, OMIM, dbSNP, KEGG, and HPRD. All of this information is stored in portable SQLite database that allows one to explore and interpret both coding and non-coding variation using “off-the-shelf” tools or an enhanced SQL engine.

Please also see the original manuscript.

This video provides more details about GEMINI’s aims and utility.

Note

  1. GEMINI solely supports human genetic variation mapped to build 37 (aka hg19) of the human genome.
  2. GEMINI is very strict about adherence to VCF format 4.1.
  3. For best performance, load and query GEMINI databases on the fastest hard drive to which you have access.

Citation

If you use GEMINI in your research, please cite the following manuscript:

Paila U, Chapman BA, Kirchner R, Quinlan AR (2013)
GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations.
PLoS Comput Biol 9(7): e1003153. doi:10.1371/journal.pcbi.1003153

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GEMINI is a flexible framework for exploring genome variation.

GEMINI links

Sources

Browse source @ GitHub.

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