Making sense out of missense mutations

SFARI launched a request for applications in early 2015 that sought proposals to develop medium- and high-throughput screens to test the functional effects of de novo missense variants identified in the Simons Simplex Collection and other autism cohorts. Here, SFARI Senior Scientist Alan Packer discusses the proposals that were selected for funding as well as highlighting recent papers that have provided functional evidence for missense variants contributing to autism and other disorders.

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