Scientists are sequencing whole genomes of people with autism at an unprecedented scale, generating massive amounts of data. As autism researchers grapple with this shared wealth, collaboration and transparency will be crucial, they say.

The list of genes tied to autism has grown dramatically over the past few years, thanks in large part to two massive projects. Each of the projects ventured to sequence the exomes — regions of the genome that code for proteins — of thousands of people with autism and their family members. This approach can identify mutations in genes, but skips over the non-coding sections in between. Other methods capture large structural variations in the DNA of people with autism, but miss small, subtle irregularities.

Until now, scanning through the entire genome has not been possible at a large scale. But a lower cost of sequencing, along with advances in technology, has made whole-genome sequencing for thousands of genomes suddenly possible. This breakthrough, researchers say, is poised to propel our understanding of the genetics of autism by identifying many more and new types of genetic variants.

Autism Speaks is spearheading an effort called MSSNG (a name that is symbolically ‘missing’ vowels) to sequence the whole genomes of 10,000 people with autism or their family members. Half of the sequences are already available to researchers on an open platform hosted by Google.

Meanwhile, the Simons Foundation (Spectrum’s parent organization) is funding the New York Genome Center to sequence the whole genomes of more than 2,600 families in the Simons Simplex Collection (SSC). These families each have one child with autism, unaffected parents and one unaffected sibling. The first stage of the project — 2,000 sequences from 500 families — is nearly complete, with 1,982 sequences already available to scientists.

With funds from the National Institutes of Health, the center is also sequencing another 500 of these families and expects to have 2,000 more sequences available later this year. The ultimate aim is to sequence genomes from all 2,664 families.

Together, these two efforts are generating massive amounts of data that researchers can scour for clues to the genetic basis of autism. We asked experts what they hope to learn from this treasure trove of sequences and how best to work with the communal resources.

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