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

📣New from Li et al! 📄Whole genome sequence-based association analysis of African American individuals with bipolar disorder and schizophrenia 👉http://bit.ly/4lWks1M

📣New from @deveshp.bsky.social & co! 📄Targeted plasma #proteomics uncover proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders 👉https://tinyurl.com/t53jhthu

@hggadvances.bsky.social latest article applies Breasi-CRISPR, an approach that couples in utero electroporation and CRISPR editing, to model Megalencephaly Postaxial Polydactyly Polymicrogyria Hydrocephalus (MPPH) syndrome: www.cell.com/hgg-advances... #ASHG #GeneticsDiscoveries #HumanGenetics

🎖️Congratulations to Elizabeth Bhoj, MD, PhD winner of the ASHG 2025 Early Career Award! Learn more about the award and Dr. Bhoj's work: https://www.ashg.org/membership/awards/2025-awardees/ #ASHG #HumanGenetics

Applications are due today!!

📣New Brief Communication! 📄Modeling MPPH syndrome in vivo using Breasi-CRISPR #CRISPR 👉http://bit.ly/3VgyIHA

🚨Applications are open! Through August 25, apply to lead and shape the future of @hggadvances.bsky.social as its next Editor-in-Chief!🧬Be a part of an open-access journal known for high standards of scientific rigor, validity, and reproducibility➡️ apply.ashg.org/a/page/hgga-... #ASHG

Please consider applying to be HGG new EiC! HGG is a fantastic avenue for publishing work in genetics and genomics, striving for fast turnaround and is committed to open access.

Only a few studies have identified specific causal genes for chronic obstructive pulmonary disease (COPD). @hggadvances.bsky.social latest article reports that variants affecting RNA splicing in blood and lung tissue can explain many COPD associations: www.cell.com/hgg-advances... #ASHG

📣New from Lin et al! 📄Genetic Rare Disease Prevention and Control: Family-Based Screening and Reproductive Interventions in Changsha 👉 bit.ly/3Hu2gyr

🥳 Congratulations to our outstanding Associate Editor, Elizabeth Bhoj!

Take your genomic analysis to the next level! Join Ricky Magner, PhD, on August 27 for a virtual workshop on the imputation service, through AoU/AnVIL, designed for all experience levels. Register now: learning.ashg.org/products/wor... 📹 youtube.com/shorts/HwUTY... #ASHG #HumanGenetics

Discover the deep-learning method that captures genetic interaction effects and outperforms existing methods—Variational AutoEncoder-based Model for PRS Construction (VAE-PRS). Read @hggadvances.bsky.social's latest article for more details: www.cell.com/hgg-advances... #ASHG #GeneticsDiscoveries

📣New from Huang et al! 📄FAHD1-Mediated Pyruvate Metabolism in hepatocellular carcinoma: Multi-Omics and Causal Genetic Evidence 👉http://bit.ly/3HuQ7cu

Apply to be the next EiC for @geneticssociety.bsky.social journal @hggadvances.bsky.social HGGA! Due August 25. #publishing #scicomm #genetics

📣New from Saferali et al. 📄Overlap between #COPD genetic association results and transcriptional quantitative trait loci 👉http://bit.ly/4fCMMon

📣New from @johnwitte.bsky.social & co! 📄Investigating the Role of Neighborhood Socioeconomic Status and Germline Genetics on Prostate #Cancer Risk 👉http://bit.ly/4fuwyNU

📣New from Janin et al 🫀🧬 📄Early onset multivalvular disease caused by a missense variant in lamin A/C 👉http://bit.ly/3J3RAXN

📣New from Quan Sun & co! 📄Variational Autoencoder-based Model Improves Polygenic Prediction in Blood Cell Traits 👉http://bit.ly/4ftLzzv

📣New from Diep & Lipshutz 📄Evaluation of SLC6A8 Species Conservation and the Effect of Pathogenic Variants on Creatine Transport 👉http://bit.ly/3UjYSZP

@hggadvances.bsky.social sat with Oliver Pain, PhD, in the latest "Inside HGGA" to discuss his recently published paper, “Leveraging Global Genetics Resources to Enhance Polygenic Prediction Across Ancestrally Diverse Populations.” ➡️ www.ashg.org/hgga/inside-... #ASHG #GeneticsDiscoveries

📣New from Cheng et al! 📄A Specialized Reference Panel with Structural Variants Integration for Improving Genotype Imputation in #Alzheimer's Disease and Related Dementias 👉http://bit.ly/4lXjLWV

The latest @hggadvances.bsky.social study systematically characterizes TP53 variants with reduced penetrance, revealing intermediate functional effects and later-onset cancer risk compared to classic pathogenic variants. Learn more: www.cell.com/hgg-advances... #ASHG #HumanGenetics

Register today--you won't want to miss the next @hggadvances.bsky.social Journal Club!

🎉 Congrats @audreyhendricks.com on receiving the 2025 ASHG Education Award! Hendricks is recognized for her contributions to human genetics and genomics education. From founding training programs to mentoring the next generation of scientists, she continues to make a lasting impact on the field.

Celebrating 5 years of HGG Advances! Hear from Associate Editor @audreyhendricks.com: hubs.li/Q03ctDJn0

📣New from Hutten et al! 📄Differential performance of polygenic risk scores for coronary #heartdisease in Hispanic/Latino subgroups: Findings of the Hispanic Community Health Study/Study of Latinos 👉http://bit.ly/455X4ID

Huge congrats to @audreyhendricks.com for her 2025 ASHG Educator Award! So incredibly well-deserved.

Special congratulations to our Associate Editors @audreyhendricks.com & Elizabeth Bhoj!! 🥳🥳

📣Online now! 📄De Novo Missense Variants in CHTF18: The Potential to Expand the Clinical Spectrum of Cohesinopathies 👉 bit.ly/44PUdop

We're seeking our next EiC! Are you passionate about human genetics & open science? Apply at apply.ashg.org/a/page/hgga-...

“HGG Advances is a reflection of where our field is going.” For five years, the journal has published work that drives science forward. @hggadvances.bsky.social Associate Editor Noura Abul-Husn, MD, PhD, invites you to celebrate this anniversary by being a part of what’s next! 📹 bit.ly/3GwqFTD

📣New from Fortuno et al! 📄Characteristics predicting reduced penetrance variants in the high-risk #cancer predisposition gene TP53 👉https://bit.ly/44KxPN9

📣New from Williams et al! 📄Phasing millions of samples achieves near perfect accuracy, enabling parent-of-origin analyses 👉 bit.ly/453y2tV

@hggadvances.bsky.social latest study from @oliverpain.bsky.social introduces a summary-statistic-based strategy for optimally combining population-specific scores, thus supporting flexible, efficient, & equitable genomic prediction using multi-ancestry GWAS: www.cell.com/hgg-advances... #ASHG

📣New from Zakelj et al! 📄Genotypic, functional, and phenotypic characterization in CTNNB1 neurodevelopmental syndrome 👉https://bit.ly/3TT2IsB

📣New from Michelle-Robinson et al! 📄Comprehensive Genotype-Phenotype Analysis in POLR3-Related Disorders 👉https://bit.ly/3TNTGNB

📣Online now! 📄Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9 👉https://bit.ly/4f3UaZC

📣New from @oliverpain.bsky.social! 📄Leveraging Global Genetics Resources to Enhance Polygenic Prediction Across Ancestrally Diverse Populations 🌍 👉http://bit.ly/3GN5rAW

@hggadvances.bsky.social latest article assessed different prostate cancer risk prediction methods using nine polygenic risk scores (PRS) in three large cohorts. @juliasteinberg.bsky.social & co's findings support the utility of PRS for population-based risk stratification: bit.ly/4nZRGQe #ASHG

Thinking of submitting to HGG Advances? We welcome submissions covering the complete spectrum of human genetics and genomics research. Hear more from our editors: hubs.li/Q03v8dZ40

Our July issue is online! Catch up with the latest in human #genetics & #genomics www.cell.com/hgg-advances...

📣Online now! 📄Polygenic Risk Scores for Prostate Cancer: Comparative Evaluations in UK and Australian Cohorts 🧑‍🤝‍🧑 @juliasteinberg.bsky.social & colleagues 👉 bit.ly/40Jqv1M

🫀New from Alankarage et al! 📄Haploinsufficient variants in SMAD5 are associated with isolated congenital heart disease