The interplay of common, rare variation in autism
Autism researchers should ditch the false dichotomy between common inherited variants and much rarer random mutations.
Autism researchers should ditch the false dichotomy between common inherited variants and much rarer random mutations.
After a decade of fast-paced discovery, researchers are racing toward bigger datasets, more genes and a deeper understanding of the biology of autism.
How to best use a large volume of data to discover new genetic risk factors for autism is a matter of intense debate, particularly in light of historical challenges.
Teasing out how genes interact can offer clues to autism’s causes and point to treatment targets.
Children with autism inherit a greater burden of common genetic variants associated with autism than would be expected by chance. These variants combine with rare, spontaneous mutations to boost autism risk.
Whether a gene should be considered a ‘novel candidate’ for autism depends not just on whether it’s been linked to the condition before, but on the strength of that link.
As many as one in three rare mutations seen in people with autism may have nothing to do with the condition.
Children who carry certain rare mutations linked to autism learn to walk late — but have less severe social and language difficulties than do other children with the condition.
An analysis of whole genomes from more than 5,000 people has unearthed 18 new candidate genes for autism.
A massive sequencing study spanning seven countries links 38 new genes to autism and developmental delay.