Framework for genetic variants in phenotype-rich family collections

Ivan Iossifov studies the genetics of autism using the large datasets produced with comparative genomic hybridization, whole-exome and whole-genome sequencing of the extensively phenotyped Simons Simplex Collection¹.

Using these datasets, Iossifov and his colleagues have demonstrated the substantial role of de novo mutations in the form of large copy number variants, likely gene-disrupting and missense variants in the etiology of sporadic cases of low-functioning autism. Almost 40 percent of such cases could be explained by de novo mutations. But the genetics of the remaining low-functioning and high-functioning individuals with autism is still unclear and the answers for these cases may lie in the much more numerous inherited coding variants or in variants in the noncoding regions of the human genome.

To facilitate subsequent functional studies of the identified de novo mutations and the analysis of the large number of inherited variants by the wider scientific community, Iossifov is developing a system that would allow qualified researchers to readily access the underlying database of genetic variants and phenotypic attributes of family collections through an intuitive web interface.