📣New from Doss et al! 📄Exon-skipping due to biallelic splice site mutations in the neurodevelopmental disease gene LNPK 👉 bit.ly/4nNcA3z

📣New from Xu et al! 📄CUL1 Variants Cause Severe Neurodevelopmental Disorders: Insights from Human Genetics and a Zebrafish Model of Microcephaly 🧬🐟🧠 👉 bit.ly/4oyJqWU

📣Online now! 🧬🪰 📄Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models 🧑‍🤝‍🧑 @poseypod.bsky.social #UDN & co 👉 tinyurl.com/muypbjat

Don't forget to register for our next Journal Club--NEXT WEDNESDAY!!

📣Online now! 🧬🫀 📄Multi-trait #GWAS identified risk loci and candidate drugs for heart failure 👉 tinyurl.com/5n8rsn78

📣 New from @sashagusevposts.bsky.social & co! 📄Discovery of disease-associated cellular states using ResidPCA in single-cell RNA and ATAC sequencing data 🖥️ github.com/carversh/res... 👉 tinyurl.com/357m7s77

📣Online now! 📄Splicing and frameshift variants in QSER1 may be involved in developmental phenotypes 👉 tinyurl.com/2ryww2zy

📣 New from @profsimonfisher.bsky.social & co! 📄Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity 👉 tinyurl.com/ym94skym

📣 New from @telomeredoc.bsky.social & co! 📄Detailed Assessment of Rare and Common TERT Variation in a Family with a Telomere Biology Disorder 👉 tinyurl.com/3kwnk3zm

📣Online now! 🧬🐭 📄Genetic Landscape of Morphine Response in BXD Recombinant Inbred Mice 👉 tinyurl.com/yw6khxx2

📣Online now! 📄The impact of Indigenous American-like ancestry on risk of acute lymphoblastic #leukemia in Hispanic/Latino children 🧑‍🤝‍🧑 @charleston.bsky.social @adamdesmith.bsky.social & co 👉 bit.ly/47qXY3Q

🎉Spotlight on this year's Early Career Investigator Award winner Hye In Kim 👉Common genetic modifiers influence cardiomyopathy susceptibility among the carriers of rare pathogenic variants 📄 tinyurl.com/2fvn7zjc 📹 tinyurl.com/cnxypfus

🎉Spotlight on this year's Early Career Investigator Award winner @mariagtac.bsky.social 👉Functional genomics implicates natural killer cells in the pathogenesis of ankylosing spondylitis 📄 tinyurl.com/thw54sv7 📹 tinyurl.com/4c5knydd

🚨ICYMI 📄GrafAnc: Reliable and Reproducible Inference of Continental and Regional Population Structure 👉bit.ly/4qpy7SA

🥳Congratulations again to winners of the HGG Advances & @ajhgnews.bsky.social Outstanding Publication awards! Check out these videos to learn more about this group of inspiring young scientists!

📣New from Wang & colleagues! 📑Fine Mapping Regulatory Variants by Characterizing Native CpG Methylation with Nanopore Long-Read Sequencing 👉 bit.ly/4o8qMoY

The celebration for @hggadvances.bsky.social 5th anniversary continues! During #ASHG25 only, stop by #ASHG Central, booth #854, for a free speaker🔊 (while supplies last) 🔗 www.ashg.org/publications... #ASHG

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

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!

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.

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.

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

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 🫶 💪.

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!

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

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...

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

📣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

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!

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

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

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

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

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

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

📣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

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

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

🚨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

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

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

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

📣New from Ganesh et al! 📄The Karnataka Individual Genome Project expands the human reference landscape to include South Asia 👉https://bit.ly/4mrU405

📣New from Tomar & co! 📄Aberrant N-glycosylation may be a therapeutic target in carriers of a common and highly pleiotropic variant in the manganese transporter ZIP8 👉 bit.ly/4mufLws

Our work on leveraging pathway-specific polygenic scores to discover gene-environment interactions is now online at HGG Advances (@hggadvances.bsky.social). 10/10 great review process! www.cell.com/hgg-advances... cc @kewesterman.bsky.social

📣Online now from @arundurvasula.bsky.social & co! 📄Pathway-specific polygenic scores substantially increase the discovery of gene-adiposity interactions impacting liver biomarkers 👉https://bit.ly/47HmkYW

Thanks to Associate Editor Heather Wheeler for sharing her experience as an @hggadvances.bsky.social author!

📣New from Park & Ray! 📄A robust pleiotropy method with applications to lipid traits and to inflammatory bowel disease subtypes with sample overlap 👉https://bit.ly/3JV3Yty

📣Online now from Epting et al! 📄PATJ deficiency leads to cystic kidney disease and related ciliopathies 👉http://bit.ly/45WOHAW

📣New from Levey et al! 📄Genetics of SSRI Antidepressant Use and Relationship to Psychiatric and Medical Traits 👉http://bit.ly/4nbNICz