📣 New from Balla et al! 📄 Understanding Exceptional Response: The Role of MINDY1 SNP in CDK4/6 Inhibitor Therapy for ER-Positive, HER2-Negative Advanced #breastcancer 👉 bit.ly/4qy78TZ

📣 New from Congdon et al! 📄 Investigating and correcting a rare pathogenic mutation in GDF11

📣 New from Groza & colleagues! 📄A systematic assessment of Large Language Models’ knowledge of rare diseases: How much do Large Language Models know about rare disease? #LLMs #raredisease 👉 bit.ly/3N1WrKM

📣New from Bonde et al! 📄A homozygous synonymous NOP58 variant causes a neurodevelopmental disorder by impairing maturation of pre-ribosomal RNAs 👉 bit.ly/48QWdxu

@hggadvances.bsky.social latest study explores how healthcare providers disclosed monogenic, polygenic, & integrated risk results in the eMERGE IV study, highlighting provider confidence, perceived complexities, & communication challenges. Read the full study: bit.ly/3XJ46Qo #ASHG #HumanGenetics

📣New from Ferolito et al! 📄Leveraging Large-Scale Biobanks for Therapeutic Target Discovery 👉 bit.ly/48QT3Kh

📣New Brief Communication from Chifamba et al! 📄Lack of Association Between G6PD Variants and #Parkinson’s Disease 👉 bit.ly/48CaZb6

📣New today from Berns et al! 📄Viewing Direct-to-Consumer Genetic Test Results for Depression Risk Is Psychologically Well Tolerated: Evidence from a Longitudinal Equivalence Study 👉 bit.ly/4iGzvfW

📣New from Suckiel et al! 📄Healthcare professionals’ experiences returning monogenic, polygenic, and integrated risk results in the eMERGE study 👉 bit.ly/48tdCxq

📣 Online now! 📄 Epigenome-wide association study meta-analysis of BMI in African Americans 👉 bit.ly/3Xzl9o7

📣New from Baierl et al! 📄S4-Multi: enhancing polygenic score prediction in ancestrally diverse populations 🖥️ github.com/jpt34 👉 bit.ly/4it9IHX

📣New from Hao et al! 📄Clinical significance of regions of homozygosity detection in prenatal chromosomal microarray analysis 👉 bit.ly/4rbDbdu

Fragmented infrastructure & biospecimen scarcity stunt progress in rare disease research. @hggadvances.bsky.social latest article presents a digital platform that standardizes biospecimen protocols & enables ethical data/specimen sharing: www.cell.com/hgg-advances... #ASHG

📣New from @robbeewedow.bsky.social & co! 📄How and for whom can genetics education reduce beliefs in genetic essentialism? 🧬🏫 👉 bit.ly/4pk3axv

📣New from @galenwright.bsky.social & co! 📄Unbiased human genomic characterization of polyglutamine disorder genes to guide biological understanding and therapeutic strategies 👉 bit.ly/3X2UlfD

📣 New from Workalemahu et al. 📄 Inherited Genetic Risk in Stillbirth: A Shared Genomic Segments Analysis of High-Risk Pedigrees 👉https://bit.ly/43ubMJz

📣 New from Zhao et al! 📄 Unexpectedly high levels of normally spliced transcripts from the pathogenic SLC10A7 c.722–16A>G/ c.472-1G>T alleles in a recessive form of skeletal dysplasia 👉 bit.ly/3LC3jOn

📣 New from Liu et al! 📄 A National Biobank Framework for Rare Diseases: Standardized Infrastructure and Cross-Institutional Collaboration Accelerating Translational Innovation in China

📣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