A poster version of this work was recently presented at #ASHG23 in case someone wants a quick summary.

@thatdnaguy Thank you for all your very detailed threads from #ASHG23. Almost felt like I was there. Even though I didn't go, your threads enabled me to ask an interesting question at our group meeting today when all the members that went to ASHG were reporting back on what they learned.

#ASHG23 I might even pull an old trick out of the book and start writing blog posts about those types of things after fact instead of relying on my social media history to document experiences at these meetings.

Your sign off for this years meeting is a reminder to be kind to others: students, trainees, established professors, patients, all the people around you. You don't know their journeys. And that most of us live extremely privileged lives. Use some of that privilege to help who you can.

#ASHG23 because it's easy, they've got a big audience, and they get pats on the back for their best tweets. Ultimately I think it's poor judgement to stay in a Billionaire's walled play ground. Eventually it's going to crumble around your ears. I'm going to stay around this neighborhood or ones like it and see what happens. Maybe more people will toot their impressions of ASHG next year than we saw this year.

#ASHG23 On the social media side, I've thoroughly enjoyed my move to Mastodon, though there are few of the old science guard here that I can see. I understand it's complicated. Yes masto is federated, but then someone has to foot the cost of hosting and troubleshooting. Lots of people can't do that. But there are also plenty of people with lots of science social capital who are choosing to stay in a white supremacist haven.

#ASHG23 And mostly there is the feeling that for a large professional organization it's easy to stick your neck out for ensuring funding and recognition. It's harder for them to stick their necks out for people without money, or nature papers, or patents, or SUPER SPECIAL exclusive rewards. The membership includes all sexes and orientations and population ancestries. Pushing equity is more than safely saying "We're fair!" from a platform at a meeting few patients could afford to walk into.

#ASHG23 Until we recognize that the real win is the intersection of science and society, it's easy to say "Oh we'll be equitable." While someone dies because they can't afford the quarter million dollar treatment. It's easy to glad hand all around at the ASTOUNDING SCIENTIFIC PROGRAM while not standing up for broader access and reasonable costs.

#ASHG23 Instead of community engagement, dynamic consent, and bidirectional knowledge exchange, consents are written to be signed once during a quick visit separate from a clinical visit or at the end up it. Consents are written to ensure that Universities get patent privilege with no remuneration for patients even if their samples are required for the discovery.

#ASHG23 Where I feel like we're really falling short is ensuring equitable access for everyone. It's an easy set of buzzwords. It's easy to make the ASHG vision that everyone realizes the benefits of genomics. But the US method is typically the exact opposite.

#ASHG23 The Australian Indigenous people's genomics session this morning was great. We heard similar things about H3 in Africa and moving at the speed of trust in the community.

#ASHG23 Same for ASO deployment in n-of-1 patients with specific de novo mutations, and genome editing by Cas9 or base editors for clinical treatment. We're really on the cusp of some amazing outcomes.

#ASHG23 The meeting itself has had a ton of really great content. Remembering when NGS was the brand new thing and wasn't ready for the clinic, it's great to see long-read and alternative methodologies queuing up for clinical deployment.

#ASHG23 I've got a committee meeting in about 20 minutes, then I'll make my last work of posters. I can't make the plenaries tonight, so this is probably my last meeting update until next year in (I think) Denver.

Such a stimulating session this morning on male infertility, I loved how many unexpected points of contact there were between the different speakers and what great company I was in. Thank you to Don Conrad and Maris Laan for the invitation to present my work on male reproductive ageing here.
#ASHG23

#ASHG23. Moving to questions. That's a wrap for session 2, day 4.

#ASHG23 ISRB: Allows you to expand success by flagging some with short-reads that are concerning and following up with long-reads to nail down the actual repeat expansion size.

#ASHG23 ISRB: See contraction in the long-read. Some evidence of mosaicism in parent with long-read missed with short-read. Biggest gain in one family where ONT found additional 1000 copy expansion over the prediction from short-read.

In general no false positives.

#ASHG23 ISRB: Some representative outliers. Some outliers in the proband and siblings. Some repeats contracted. Others expanded in the proband compared to parent. What does the long-read say?

#ASHG23 ISRB: On to the genom-wide version. Screening - expansion hunter, denovo, stretch, strling. Flag by scores. visualize/confirm candidates with expansionhunter/REViewer.

#ASHG23 ISRB: Some other mutations within expanded loci. A TCF4 expanded allele had embedded CAA repeats not seen before. Unsure how that affects phenotypes. Do the interrupted repeats with additional sequences have the same pathogenicity?