Thanks Wildtype One!

Same red bar on the NHGRI website. But not on NINDS website. This likely means that these are the Institutes slated to be absorbed by other NIH Institutes. www.genome.gov

Our results define a new model of mutations for a common disease, enriched in D-Mis as well as LGDs. We identified high-confidence MM risk genes and dozens of new candidate genes from network propagation.

Our results suggest DNMs make key contributions to MM risk, and highlight critical pathways required for neural tube closure in human embryogenesis.

LGDs and D-Mis mutations occurred in 22.1% of patients, 28% of which likely contribute disease risk. Mutations were modeled in cell culture and frog, confirming protein disruption and neural tube defects.

Sequencing 2541 individuals, we identified likely damaging mutations in 187 genes, almost none previously implicated in MM. Damaged genes showed widespread expression on spatial transcriptomics (MERFISH) of early mouse development.

We focus on trios to identify de novo mutations overrepresented in MM. In a 10-year effort from 17 worldwide recruitment sites, we created the Spina Bifida Sequencing Consortium, with 851 trios.

Congrats @elizathwinzler!! @ucsd