The Simons Simplex Collection (SSC), a database of genetic and clinical information from families that include one child with autism, has gathered data from more than 2,000 different families, researchers report in the October issue of Neuron.

The first genome-wide linkage analysis of more than 1,200 families has identified regions implicated in autism as originating from either the paternal or maternal copies of chromosomes.

Researchers have mapped unique identifiers in the regions around human genes that are at risk for duplication or deletion, allowing precise sequencing of nearly 1,000 genes for the first time, according to a paper published today in Science.

A new study, published in September in PLOS Genetics, shows the importance of comparing cases to controls when linking mutations to a disorder. The researchers propose a new method of analysis that takes into account the large size of many genes expressed in the brain.

A new wave of genetic tests for fragile X syndrome, the leading cause of inherited mental retardation and the most common genetic cause of autism, may make it possible to routinely screen pregnant women and newborns for the syndrome.

Spontaneous harmful mutations are more frequent in individuals with autism and schizophrenia, according to two studies published in September.

A common variation within a region on chromosome 16 puts a large proportion of the general population at risk for intellectual disability, according to a study published in August in Nature Genetics.

In order to understand the interaction between genes and environment in autism, researchers in different disciplines will have to move back and forth between those two realms, stretching out of their intellectual comfort zones. But if the mood at an interdisciplinary workshop two weeks ago is any indication, that challenge is also a source of excitement.

Researchers have devised a system to assign a unique identifier to each participant in an autism study. This Global Unique Identifier, or GUID, allows investigators to see which other studies participants have enrolled in, while maintaining participants’ privacy.

For a few hundred dollars and a bit of your spit, you can have parts of your DNA analyzed. If you’re more ambitious, $20,000 — and a lot less than that a year from now — will buy you the sequence of your entire genome. But the real question is should you, and others like you, find out what secrets your genome holds?