Figure 1. Micrographs of spinal cord motoneurons showing SOD1-immunoreactive inclusions.
Image credit: Forsberg, et. al. 2010 under CC BY license

ALS Genetics

Do you know of additional databases of ALS genetics that are openly available to the ALS research community? Please let us know by emailing us at alsresearchforum@prize4life.org.

 


 

ALS Data Browser (ALSdb)

The ALSdb is a database of exome sequencing data from 1,424 Caucasian people diagnosed with ALS, of which 93.5% are sporadic ALS patients. The database includes information on single nucleotide variants, as well as and insertion and deletion variants. The project was led by Tim Harris of Biogen, David Goldstein of the Institute for Genomic Medicine (IGM) at Columbia University, and Richard Myers of HudsonAlpha. Sequencing was conducted at 4 participating institutes: the IGM, HudsonAlpha, McGill University and Stanford University.

Primary reference: Cirulli, ET, Lasseigne, BN et. al. Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science. 2015 Mar 27;347(6229):1436-41. Pubmed.

 


 

ALSGene

The goal of the ALSGene database is to serve as a comprehensive, publicly available collection of published genetic association studies assessing ALS risk. To this end, ALSGene provides a detailed qualitative overview of all identified eligible ALS genetic association studies. Furthermore, it presents quantitative assessments of the cumulative evidence for association by calculating and providing up-to-date meta-analysis results on eligible polymorphisms. The database was designed by the team of Lars Bertram at the Max Planck Institute for Molecular Genetics, and was last updated in 2013.

Primary Reference: Lill CM, Abel O, Bertram L, Al-Chalabi A. Keeping up with genetic discoveries in amyotrophic lateral sclerosis: The ALSoD and ALSGene databases.  Amyotroph Lateral Scler. 2011 Jul;12(4):238-49. Pubmed.

 


 

Amyotrophic Lateral Sclerosis Online Genetics Database (ALSoD)

The ALSoD is an open source ALS data repository for sharing clinical and genetic data, and offers tools for storage, analysis and interpretation of genetic data in combination with  genotype, phenotype, and geographical information. It contains information on ALS associated genes identified from familial ALS studies and genome wide association studies (GWAS). Some of ALSoD’s features include a comparison tool to evaluate genes side by side, a pathogenicity prediction tool, a credibility tool as well as options for integration of external tools, systems for feedback, annotation by users, and two-way links to collaborators hosting complementary databases. The ALSoD is led by Ammar Al-Chalabi and Olubunmi Abel of King’s College London, and is a joint project of the World Federation of Neurology and European Network for the Cure of ALS.

Primary Reference: Abel, O. et. al. ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics. Hum Mutat. 2012 Sep;33(9):1345-51. Pubmed.

 


 

ALS Variant Server (ALS VS)

The ALS VS is an open access database of exome sequencing data from approximately 277 sporadic ALS cases from the United States and Italy. The data includes single nucleotide polymorphisms, but not information on insertions and deletions. The database was developed by John Landers and Robert Brown from University of Massachusetts Medical School, and Nicola Ticozzi and Vincenzo Silani of the IRCCS Istituto Auxologico Italiano in Milan, Italy, with additional data contributions from Aaron Gitler of Stanford University, and Cinzia Gellera of the Fondazione IRRCS Istituto Neurologico ‘Carlo Besta’. The site is currently being updated with new data.

 


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