A uniform call-set of joint variant calls, including single-nucleotide variants and indels, for 9,209 samples with whole-genome sequencing data from the Simons Simplex Collection is now available.
Six current and past SFARI Investigators were among the 100 newly elected members of the National Academy of Medicine.
A number of SFARI Investigators, collaborators and Simons Foundation scientists will present their latest research findings related to the genomic and transcriptomic architecture of autism spectrum disorder and other neurodevelopmental conditions at the 2019 annual meeting of the American Society of Human Genetics (ASHG), which will be held October 15–19 in Houston, TX.
SFARI is pleased to announce that is intends to fund 12 grants in response to the Summer 2019 Pilot Award request for applications.
SFARI Investigators will give a number of presentations at Neuroscience 2019 in Chicago, IL (October 19–23).
Findings from the first SPARK genetics study have now been published. The study, which analyzed whole-exome and genome-wide genotyping data from 457 autism families, confirmed known genetic findings and identified new candidate autism risk genes.
New Simons Searchlight data were recently added to SFARI Base. This data release included phenotypic data from individuals with 16p11.2 copy number variants (CNVs), 1q21.1 CNVs and variants in 21 single genes associated with autism and related neurodevelopmental disorders.
The Simons Variation in Individuals Project (Simons VIP) has been recently rebranded as Simons Searchlight. The new name aims to better reflect the program’s mission to build strong partnerships between researchers and families in order to shed light on genetic neurodevelopmental conditions. An updated website, improved registration process and more resources are also available, including new opportunities for individuals with a genetic diagnosis to join Simons Searchlight.