:: DESCRIPTION
GQL (Genome Query Language) allows for the efficient querying of genomic fragment data to uncover evidence for variation in the sampled genomes.
::DEVELOPER
:: SCREENSHOTS
N/A
:: REQUIREMENTS
:: DOWNLOAD
:: MORE INFORMATION
Citation:
Bioinformatics. 2014 Jan 1;30(1):1-8. doi: 10.1093/bioinformatics/btt250. Epub 2013 Jun 10.
Using Genome Query Language to uncover genetic variation.
Kozanitis C1, Heiberg A, Varghese G, Bafna V.
:: DESCRIPTION
Kafeen is a quick and easy command-line tool for locally querying genetic variation data from dbNSFP, ESP6500SI, 1000 Genomes, and OtoSCOPE. Its output is configurable and is meant to be tailored to your own local database needs.
::DEVELOPER
Coordinated Laboratory for Computational Genomics (CLCG)
:: SCREENSHOTS
N/A
:: REQUIREMENTS
:: DOWNLOAD
:: MORE INFORMATION
:: DESCRIPTION
Cordova (Curated Online Reference Database Of Variation Annotations) is an open source, web-based content management system for building and maintaining a database of genetic variations. It provides an interface for researchers to review and manually or computationally curate data prior to public release. Cordova offers a platform to share reliable genetic variation data for clinical diagnostics and the advancement of research.
::DEVELOPER
Coordinated Laboratory for Computational Genomics (CLCG)
:: SCREENSHOTS
N/A
:: REQUIREMENTS
:: DOWNLOAD
:: MORE INFORMATION
Citation
Cordova: web-based management of genetic variation data.
Ephraim SS, Anand N, DeLuca AP, Taylor KR, Kolbe DL, Simpson AC, Azaiez H, Sloan CM, Shearer AE, Hallier AR, Casavant TL, Scheetz TE, Smith RJ, Braun TA.
Bioinformatics. 2014 Aug 14. pii: btu539.
:: DESCRIPTION
ms is a program to generate samples under a variety of neutral models. The purpose of this program is to allow one to investigate the statistical properties of such samples, to evaluate estimators or statistical tests, and generally to aid in the interpretation of polymorphism data sets.
::DEVELOPER
:: SCREENSHOTS
N/A
:: REQUIREMENTS
:: DOWNLOAD
:: MORE INFORMATION
Citation:
Richard R. Hudson (2002).
Generating samples under a Wright-Fisher neutral model of genetic variation.
Bioinformatics 18: 337-338.
:: DESCRIPTION
PLINK/SEQ is an open-source C/C++ library for working with human genetic variation data. The specific focus is to provide a platform for analytic tool development for variation data from large-scale resequencing projects, particularly whole-exome and whole-genome studies. However, the library could in principle be applied to other types of genetic studies, including whole-genome association studies of common SNPs.
::DEVELOPER
:: SCREENSHOTS
N/A
:: REQUIREMENTS
:: DOWNLOAD
:: MORE INFORMATION
:: DESCRIPTION
Gemini (GEnome MINIing) is a powerful framework for exploring genetic variation in the context of the wealth of existing genome annotations that are available for the human genome. By integrating diverse annotations with genetic variation in the now standard VCF format, researchers have an single system for prioritizing variants in studies of human disease.
::DEVELOPER
:: SCREENSHOTS
N/A
:: REQUIREMENTS
:: DOWNLOAD
:: MORE INFORMATION
Citation:
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
