[Massively parallel sequence analysis for revealing causes of neuromuscular disorders].

Abstract excerpt

Molecular genetic studies, positional cloning in particular, contributed to progresses in neurology. However, because of a bottleneck of low sequence analysis throughput, large proportions of small families, especially of late-onset hereditary diseases, still remain to be elucidated. The massively parallel sequencers are expected to identify causative genes in such a small but meaningful families and to reveal...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genetic Variation
• Share to Genome-Wide Association Study
• Share to High-Throughput Nucleotide Sequencing