Community bulletin: Complete human genome, convergence of chromosome 16, avoiding ableism | Spectrum


Illustration by Laurene Boglio

Welcome to April and #AutismAcceptanceMonth.

The cover of Science Friday hailed a landmark year in the making: The Telomere-to-Telomer consortium finally closed nearly every gap in the original human genome project, adding about 200 megabases of genetic information, more than 1,900 genes and a sequence complete for the Y chromosome.

To mark the occasion, Evan Eichler, professor of genome science at the University of Washington in Seattle, tweeted for the first time, noting that the project, which involved more than 100 researchers, had been a “wonderful collaborative teamwork.”

“Congratulations!” tweeted Claudia Gonzaga-Jauregui, assistant professor of genetics at the National Autonomous University of Mexico in Mexico City, calling the results “awesome resource— and noting that Eichler’s tweet comes nearly a decade after he created an account.

Simon Barnett, a genomics analyst at ARK Investment Management in St. Petersburg, Florida, joked that Eichler had “set a new bar for the first tweets.”

“Welcome to the dark side!” Jonathan Sebat, a professor of psychiatry and cellular and molecular medicine at the University of California, San Diego, chimed in.

In the area of ​​autism-specific genetics, Daniel Weiner, a Harvard University graduate student working in Elise Robinson’s lab, posted a 14-tweet thread about their new preprint that finds functional convergence of common and rare genetic variants linked to autism around the chromosomal region 16p11.2.

Common and rare risk factors »converge towards a decrease in gene expressionthrough 16p, “facilitated by 3D genome architecture,” he writes.

” It was the More funtweeted Robinson, assistant professor of epidemiology at Harvard University, asking for comment.

The Policy Impact Project – launched by Lindsay Shea, director of the Policy and Analytics Center at Drexel University in Philadelphia, Pennsylvania, to link autism research to policy change – tweeted about its upcoming “power lunchfor autism researchers. The webinar, scheduled for April 13 from noon to 1 p.m. EST, will discuss how to avoid ableist language.

That’s it for this week’s Community Newsletter! If you have any suggestions for interesting social posts you’ve seen in the area of ​​autism research, feel free to email [email protected]

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