A joint variant call-set for all Simons Simplex Collection whole-genome sequences is now available 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.
SFARI Investigators elected to the National Academy of Medicine in 2019 Six current and past SFARI Investigators were among the 100 newly elected members of the National Academy of Medicine.
ASHG 2019: Presentations by SFARI Investigators and collaborators 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…
SFARI Summer 2019 Pilot awardees announced SFARI is pleased to announce that is intends to fund 12 grants in response to the Summer 2019 Pilot Award request for applications.
Neuroscience 2019: Presentations by SFARI Investigators SFARI Investigators will give a number of presentations at Neuroscience 2019 in Chicago, IL (October 19–23).
SPARK pilot study identifies novel candidate autism risk genes 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.
Simons Searchlight: New data release 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.
Simons VIP rebranded as Simons Searchlight 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,…