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The Brain Somatic Mosaicism Network (BSMN), a National Institute of Mental Health (NIMH) funded network of 18 investigative teams representing 15 institutions, couples next generation genomic technologies with well-curated human tissue repositories to define the frequency and pattern of somatic mutations in both neurotypical individuals and those with neuropsychiatric disease. Collectively, the BSMN’s efforts are estimated to generate a community resource of greater than 10,000 DNA-sequencing data sets and will facilitate a cross-platform integrated analysis with other NIMH initiatives, including PsychENCODE and CommonMind.
For more information, please visit brainsomaticmosaicism.org.
http://brainsomaticmosaicism.org
The Brain Somatic Mosaicism Explorer is a web-based interface that provides multi-faceted visualizations of the data and findings generated by the BSMN. The site features data from the BSMN’s “common experiment” – where the network is determining concordance among disparate sequencing and bioinformatic approaches – as well as group-specific projects in disease areas including autism spectrum disorder, bipolar disorder, Tourette syndrome, and epilepsy.
For each BSMN project, including the common experiment and each disease area, the tool allows users to explore visualizations encapsulating key (i) project-level and (ii) variant-level information.
- Sample table
- Interactive variant call table
- Variant overlap plot
- Variant call summary
- High-level variant information
- Population frequencies
- Group that identified the variant
- Allele fractions across samples for a given variant
- IGV view across samples for a given variant
- Search for variants
The BSMN is determining concordance among disparate sequencing and bioinformatic approaches by performing a “common experiment” in which pulverized tissue from one neurotypical individual in the Lieber brain repository is distributed to all of the analysis groups for independent assessment of mosaicism.
The Park Lab has worked to characterize the genome-wide landscape of clonal somatic mutations in the brains of individuals diagnosed with Autism Spectrum Disorder as well as neurotypical subjects. The lab’s analysis leverages high-depth next-generation sequencing of tissues derived from a total of 75 post-mortem brains.
For each BSMN project, including the common experiment and each disease area, the tool allows users to explore visualizations encapsulating key (i) project-level and (ii) variant-level information.