Keeping up with genetic discoveries in amyotrophic... [Amyotroph Lateral Scler. 2011] - PubMed result

Keeping up with genetic discoveries in amyotrophic... [Amyotroph Lateral Scler. 2011] - PubMed result: "Amyotroph Lateral Scler. 2011 Jul;12(4):238-49.
Keeping up with genetic discoveries in amyotrophic lateral sclerosis: The ALSoD and ALSGene databases.
Lill CM, Abel O, Bertram L, Al-Chalabi A.
Source
Neuropsychiatric Genetics Group, Department of Vertebrate Genomics, Max Planck Institute for Molecular Genetics , Berlin , Germany.


Abstract

Abstract Amyotrophic lateral sclerosis (ALS) is a genetically heterogeneous disorder that shows a characteristic dichotomy of familial forms typically displaying Mendelian inheritance patterns, and sporadic ALS showing no or less obvious familial aggregation. While the former is caused by rare, highly penetrant, and pathogenic mutations, risk for sporadic ALS is probably the result of the combined effects of common polymorphisms with minor to moderate effect sizes. Owing to recent advances in high-throughput genotyping and sequencing technologies, genetic research in both fields is evolving at a rapidly increasing pace making it more and more difficult to follow and evaluate the most significant progress in the field. To alleviate this problem, our groups have created dedicated and freely available online databases, ALSoD ( http://alsod.iop.kcl.ac.uk/ ) and ALSGene ( http://www.alsgene.org ), which provide systematic and in-depth qualitative and quantitative overviews of genetic research in both familial and sporadic ALS. This review briefly introduces the background and main features of both databases and provides an overview of the currently most compelling genetic findings in ALS derived from analyses using these resources.

PMID:
21702733
[PubMed - in process]

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