Genetics

Metadata Standards

Genome Metadata

Descriptive data about single genomes within the Pathosystems Resource Integration Center.

ISA-Tab

A general purpose framework with which to capture and communicate metadata for data files from 'omics-based' experiments employing combinations of technologies.

MIBBI - Minimum Information for Biological and Biomedical Investigations

A common portal to a group of checklists of Minimum Information in nearly 40 biological disciplines.

Repository-Developed Metadata Schemas

Some repositories have decided that current standards do not fit their metadata needs, and so have created their own requirements.

Extensions

MIBBI Portal

A list of nearly 40 Minimum Information standards projects registered with the MIBBI initiative.

VarioML
A set of tools and practices improving the availability, quality, and comprehensibility of human variation information. It enables researchers, diagnostic laboratories, and clinics to share that information with ease, clarity, and without ambiguity.

Tools

ISA Software Suite

The open source ISA metadata tracking tools facilitate ISA-TAB-compliant collection, curation, local management and reuse of datasets in an increasingly diverse set of life science domains.

MOLGENIS

A software generator to rapidly build web databases and a suite of web databases for genotype, phenotype, QTL and analysis pipelines.

PATRIC Download Tool

Tool for downloading data from PATRIC.

Use Cases

BioModels Database

A repository hosting computational models of biological systems, using the MIBBI-registered MIRIAM and MIASE minimal metadata requirements.

CHD7 Database
An open access database that contains anonymised data on both published and unpublished CHD7 variations and phenotype.
dbEST - Expressed Sequence Tag Database

A repository-developed metadata schema for EST data in Genbank.

International dystrophic eb Patient Registry
The international registry of dystrophic epidermolysis bullosa (DEB) patients and associated COL7A1 mutations.
ISA Commons

A network of systems and projects that use the ISA-Tab file format, and/or are powered by components of the ISA software suite.

ISA Commons

A network of systems and projects that use the ISA-Tab file format, and/or are powered by components of the ISA software suite.

MVID Patient Registry
The international registry of Microvillus Inclusion Disease (MVID) patients and associated MYO5B mutations.
NEBC ISA Network BioInvestigationIndex

The NERC Environmental Bioinformatics Centre ISA Network's index of ISA-Tab and MIBBI-compliant environmental 'omics data.

WormQTL
Public archive and analysis web portal for natural variation data in Caenorhabditis species.
WormQTL-HD
A comprehensive web database for linking human disease to natural variation data in Caenorhabditis elegans