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Personal genome analysis software tools and databases

Individuals are now empowered to obtain and explore their full personal genome and exome sequences owing to declining costs in genome sequencing, and direct-to-consumer genetic testing companies have begun to provide sequencing services: in 2011,…
GBrowse
Web

GBrowse

A mature web-based genome browser that is suitable for deployment on both…

A mature web-based genome browser that is suitable for deployment on both public and private web sites. It supports most of genome browser features, including qualitative and quantitative (wiggle)…

pyGeno
Web

pyGeno

A python package that allows you to easily combine reference genomes and sets…

A python package that allows you to easily combine reference genomes and sets of polymorphisms together to create personalized genomes. Personalized genomes can be used to work directly on the…

PGB
Web

PGB Personal Genome Browser

Provides comprehensive functional annotation and visualization for individual…

Provides comprehensive functional annotation and visualization for individual genomes based on the genetic-molecular-phenotypic model. Investigators can easily view individual genetic variants, such…

DNA Compass
Web
Desktop

DNA Compass

Allows exploration and analysis of genomic information. DNA Compass is a…

Allows exploration and analysis of genomic information. DNA Compass is a feature of DNA Land that enables the navigation of personal genomic information without command-line knowledge. The software…

perEditor
Desktop

perEditor

Changes the reference human genome (autosomal, sex and mitochondrial…

Changes the reference human genome (autosomal, sex and mitochondrial chromosomes, build NCBI36/hg18) into an individual genome, taking into account single nucleotide polymorphisms (SNPs), insertions…

FGB
Web

FGB Family genome browser

Provides comprehensive analysis and visualization for family genomes. The FGB…

Provides comprehensive analysis and visualization for family genomes. The FGB can visualize family genomes in both individual level and variant level effectively, through integrating genome data with…

SNPedia
Dataset

SNPedia

A wiki resource of the functional consequences of human genetic variation as…

A wiki resource of the functional consequences of human genetic variation as published in peer-reviewed studies. Online since 2006 and freely available for personal use, SNPedia has focused on the…

NGS-Logistics
Web

NGS-Logistics

A methodology for federated analysis of sequence variants from personal…

A methodology for federated analysis of sequence variants from personal genomes. The key concept in NGS-Logistics is to let users query SNVs across data sets in multiple centers. Users get a full…

openSNP
Dataset

openSNP

An open database which allows participants of Direct-To-Consumer genetic…

An open database which allows participants of Direct-To-Consumer genetic testing to publish their genetic data at no cost along with phenotypic information. Through this crowdsourced effort of…

G T A T C G C T A
STORMSeq
Desktop

STORMSeq Scalable Tools for Open-Source Read Mapping

A graphical interface cloud computing solution that does not require a parallel…

A graphical interface cloud computing solution that does not require a parallel computing environment or extensive technical experience. This customizable and modular system performs read mapping,…

SNPediaR
Desktop

SNPediaR

Provides some tools for downloading and parsing data from the SNPedia web site.…

Provides some tools for downloading and parsing data from the SNPedia web site. The implemented functions of SNPediaR allow users to import the wiki text available in SNPedia pages and to extract the…

myKaryoView
Web

myKaryoView

A simple light-weight distributed annotation system (DAS) tool for…

A simple light-weight distributed annotation system (DAS) tool for visualization of genomic annotation. myKaryoView has been specifically configured to help analyse data derived from personal…

DNALifestyleCoa…
Web

DNALifestyleCoach

A nutrigenetics and sports genetics DNA analysis system that provides simple…

A nutrigenetics and sports genetics DNA analysis system that provides simple actionable advice to users. DNALifestyleCoach is based on curated database of peer-reviewed articles, with each article…

Interpretome
Web

Interpretome

A system for private genome interpretation, which contains all genotype…

A system for private genome interpretation, which contains all genotype information in client-side interpretation scripts, supported by server-side databases. This system allows for personal genome…

PGP
Dataset

PGP Personal Genome Project

A charitable organization working to generate, aggregate and interpret human…

A charitable organization working to generate, aggregate and interpret human biological and trait data on an unprecedented scale. Open data is a critical component of the scientific method, but…

Promethease
Web

Promethease

A literature retrieval system that builds a personal DNA report based on the…

A literature retrieval system that builds a personal DNA report based on the scientific literature cited in SNPedia and a file of genotype (DNA) data. Customers of DNA testing services (23andMe,…

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