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Human Genetics and Genomics Advances @hggadvances.bsky.social · 1h

🎶🎶 Attention ASHG members! Head over to ASHG Central during the poster session to pick up an @hggadvances.bsky.social portable speaker! #ashg25

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Nicholas Mancuso @nmancuso.bsky.social · 4h

Hi #ashg2025! Lookin forward to another exciting event! If any trainee would like to chat, either about career advice or submitting their work to @hggadvances.bsky.social pls don't hesitate to reach out!

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Chris Gunter 🧬 @girlscientist.bsky.social · 2d

Another tip for international #ASHG25 attendees: prepare for long lines at Logan due to the government shutdown. Heard it was 2.5 hours over the weekend.

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Chris Gunter 🧬 @girlscientist.bsky.social · 2d

Thanks to @geneticssociety.bsky.social, if you are coming early to #ASHG25 you can show your badge at the Boston Museum of Science and get in free! Stop by for your badge first and then head over if you are not going to any of the workshops, before Sarah Tishkoff’s presidential address at 4:30pm.

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Human Genetics and Genomics Advances @hggadvances.bsky.social · 5d

Will you be at #ASHG25 next week? Come chat each day 3-4pm at ASHG Central!

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Kerstin Ludwig @kuludwig.bsky.social · 5d

I finally made (it on) my first cover 🤣 🥳!!
Congratulations to @hggadvances.bsky.social, and all my fellow co-editors, for establishing a great genomics journal. And to all authors: if your manuscript still needs a home, consider submitting with us. We would be delighted to handle your paper 🫶 💪.

Human Genetics and Genomics Advances @hggadvances.bsky.social · 6d

Our October issue is online!
Check out the amazing cover from @comfortandadam.bsky.social to commemorate 5 YEARS of HGG Advances!

www.cell.com/hgg-advances...

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Nicholas Mancuso @nmancuso.bsky.social · 5d

5 YEARS of HGG Advances! Mike, Jessica, Sara, and so many others have done such a fantastic job in shaping and expanding the journal.

Please consider submitting your work in genetics/genomics with us!

Human Genetics and Genomics Advances @hggadvances.bsky.social · 6d

Our October issue is online!
Check out the amazing cover from @comfortandadam.bsky.social to commemorate 5 YEARS of HGG Advances!

www.cell.com/hgg-advances...

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Human Genetics and Genomics Advances @hggadvances.bsky.social · 6d

📣New from TOPMed!
📄Admixture Mapping Analysis Reveals Genetic Determinants of the Human Plasma Proteome
👉 bit.ly/48Xb9M7

Human Genetics and Genomics Advances @hggadvances.bsky.social · 6d

Our October issue is online!
Check out the amazing cover from @comfortandadam.bsky.social to commemorate 5 YEARS of HGG Advances!

www.cell.com/hgg-advances...

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Human Genetics and Genomics Advances @hggadvances.bsky.social · 8d

📣New from Chow et al!
📄Colon Cancer in Appalachian Kentucky: Unique Genetic, Microbiome and Obesity Findings in a Cohort Comparison
👉http://bit.ly/4odgp2J

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Human Genetics and Genomics Advances @hggadvances.bsky.social · 9d

📣New Brief Communication from Harms et al!
📄A de novo frameshift variant in the candidate RBM15 in a proband with congenital mirror movements
👉http://bit.ly/3VS1Ntn

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Reposted by Human Genetics and Genomics Advances

Gen Wojcik @genandgenes.bsky.social · 9d

Whoops, wrong hashtag.

If you are going to #ASHG25, check out the line-up!

This is perfect if you are a trainee who needs to network but has no idea how to do it. Instead of trying to corner someone at the posters (which is stressful!), schedule a slot and sit down for 15 minutes to chat!

Gen Wojcik @genandgenes.bsky.social · 9d

Are you going to #ASHG2025 next week in Boston? Interested in getting some mentorship from leading figures in the field (and me)?

Check out our speed mentoring event on Thursday! Sign-ups are online so reserve a spot ASAP.

site.pheedloop.com/event/ASHG25...

PheedLoop

PheedLoop: Hybrid, In-Person & Virtual Event Software

site.pheedloop.com

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American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 12d

To identify carriers of C9orf72 repeat expansion alleles, a major cause of ALS and FTD, the authors of the latest @hggadvances.bsky.social article developed a LASSO-based genome-wide DNA methylation predictor. Learn more: www.cell.com/hgg-advances... #ASHG #HumanGenetics #GeneticsDiscoveries

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Stefan Barakat @stefanbarakat.bsky.social · 10d

New paper from us in Rotterdam:
"Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome"

www.sciencedirect.com/science/arti...

@hggadvances.bsky.social , Federico Ferraro, Tjakko van Ham, Marieke van Dooren and others #lrWGS

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Stefan Barakat @stefanbarakat.bsky.social · 10d

new recent publication from us in Rotterdam on RNA analysis for rare disease diagnostics #genetics #RNA #raredisease @hggadvances.bsky.social @erasmusmc.bsky.social

Human Genetics and Genomics Advances @hggadvances.bsky.social · 22d

🚨Online now!
📄Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools
👉https://tinyurl.com/4wvwf7yy

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Reposted by Human Genetics and Genomics Advances

Xilma Ortiz-Gonzalez MD PhD @drxilma.bsky.social · 13d

Congrats @pennngg.bsky.social students Briana and Leonardo! we were happy to collaborate on defining this novel human disease association for BCAT1

Human Genetics and Genomics Advances @hggadvances.bsky.social · 14d

📣New from DiSanza et al!
📄Biallelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder
👉https://bit.ly/4mGchH5

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Human Genetics and Genomics Advances @hggadvances.bsky.social · 14d

📣New from DiSanza et al!
📄Biallelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder
👉https://bit.ly/4mGchH5

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Human Genetics and Genomics Advances @hggadvances.bsky.social · 16d

📣New from Ophoff & colleagues!
📄Accurate DNA #Methylation Predictor for C9orf72 Repeat Expansion Alleles in the Pathogenic Range

Accurate DNA Methylation Predictor for C9orf72 Repeat Expansion Alleles in the Pathogenic Range

Ramesh et al. developed a robust DNA methylation–based predictor to identify C9orf72 repeat expansion carriers, a major cause of ALS and FTD. The array-based DNAm predictor was independently validated...

tinyurl.com

Human Genetics and Genomics Advances @hggadvances.bsky.social · 16d

📣New from Ferraro et al!
📄Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome
👉 tinyurl.com/59puc9km

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Human Genetics and Genomics Advances @hggadvances.bsky.social · 16d

📣New from Sherman et al!
📄Researcher Attitudes towards Hypothetical Genetic Research with Navajo People: Results from an Online Survey
👉 tinyurl.com/3nr4rm3y

Reposted by Human Genetics and Genomics Advances

American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 19d

Experimental analysis of pre-mRNA splicing is a valuable tool in reclassifying variants of uncertain significance. @hggadvances.bsky.social latest article assesses the limitations of in silico mRNA splicing prediction tools: bit.ly/4pCGyt4 #ASHG #HumanGenetics #GeneticsDiscoveries #GeneticsEducation

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Human Genetics and Genomics Advances @hggadvances.bsky.social · 22d

🚨Online now!
📄Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools
👉https://tinyurl.com/4wvwf7yy

Human Genetics and Genomics Advances @hggadvances.bsky.social · 22d

📣New from Hsiung et al!
📄 #GWAS Reveals Genetic Mechanisms underlie Eye Disorders and Comorbidities
👉https://tinyurl.com/24hcecup

Human Genetics and Genomics Advances @hggadvances.bsky.social · 22d

📣New from @sequenceman.bsky.social & co
📄Asparaginyl-tRNA synthetase (NARS1) variants implicated in dominant neurological phenotypes display dominant-negative properties
👉https://tinyurl.com/mwc5vfb4

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Human Genetics and Genomics Advances @hggadvances.bsky.social · 22d

📣New from Rushforth et al!
📄Biallelic INTU variants define a #ciliopathy disorder characterized by orofacial, digital and cardiac anomalies
👉https://bit.ly/3Kab6T1

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