News

Simons Variation in Individuals Project (Simons VIP): New data now available

New Simons VIP data have recently been added to SFARI Base. This data release includes phenotypic data from individuals with 16p11.2 copy number variants (CNVs), 1q21.1 CNVs, GRIN2B mutations and SCN2A mutations (all enrolled in the Phase 2 study). New genetic data (single nucleotide polymorphism microarray data and molecular inversion probe sequencing data) are available for many of the 16p11.2 CNV families enrolled in Phase 1.

Update on Simons Simplex Collection whole-genome sequencing data availability

Plans are underway to perform whole-genome sequencing of the entire Simons Simplex Collection (SSC). Genomes from 553 families (2,174 genomes) have been sequenced and are available to approved researchers with no publication embargo restrictions. An additional 619 families (2,476 genomes) are currently being sequenced and are expected to be available in the fall of 2016. A four-month publication embargo will apply to that batch of samples. Sequencing of the entire collection is expected to be completed by late 2017.

SFARI launches SPARK, an online research initiative that aims to recruit 50,000 individuals with autism

SFARI today announced the launch of SPARK, an online research initiative designed to become the largest autism study ever undertaken in the United States. SPARK will collect information and DNA for genetic analysis from 50,000 individuals with autism — and their families — to advance our understanding of the condition’s causes and accelerate the development of new treatments and supports.

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