Spectrum is covering the 2020 American Society of Human Genetics conference, which is taking place virtually because of the coronavirus pandemic. Here, we’re highlighting your reactions to some of the posters and talks we found noteworthy. Did you attend the conference this year? Let us know what you think at news@spectrumnews.org.

Exome analysis: An analysis of more than 28,000 sequences of exomes — the protein-coding regions of the genome — from autistic children and their families revealed 12 new genes that may be involved in autism. Xueya Zhou, a postdoctoral researcher in Yufeng Shen’s lab at Columbia University, presented the unpublished results on Wednesday afternoon. The data come from the SPARK consortium, which is collecting genetic information from 50,000 families that have at least one child with autism, and from the Simons Simplex Collection. (Both are funded by the Simons Foundation, Spectrum’s parent organization.)

The researchers also parsed the different roles that rare inherited genetic variants and de novo, or spontaneous, mutations play in autism. The results show “clear evidence that a subset of autism genes are the common targets of both,” Zhou said in his talk. But overall, the analysis found that most inherited variants don’t occur in the top known autism genes, most of which have been identified because they frequently carry de novo mutations in autistic people.

Fantastic plenary talk by Xueya Zhou on autism genomics using SFARI SSC & SPARK data in #ASHG20. Very clear presentation, including de novo and inherited variants as well as PRS contributions to ASD.

— Talkowski Lab (@TalkowskiLab) October 28, 2020

“The findings are valuable,” says Jonathan Coleman, lecturer in statistical genetics at King’s College London in the United Kingdom, who was not involved in the work. “They represent a clear advance in our understanding of the de novo variant burden in autism, and I personally found the distinction between de novo variants (top genes account for much of the signal) and inherited variants (top genes don’t account for the signal) informative.”

Great plenary by Xueya Zhou on studying both inherited and de novo variants in autism cases.

Nice to see that DeNovoWEST is being used

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