Authors of @hggadvances.bsky.social's latest article introduce endoPRS-SS, an extension that enables PRS inference using GWAS & demonstrate that it maintains the predictive accuracy of endoPRS while increasing computational efficiency up to 90-fold: https://bit.ly/471JM1m #ASHG #humangenetics

Our October issue is online--check it out!
www.cell.com/hgg-advances...

🧬New from Kharitonova et al!
📄EndoPRS-SS: Summary-statistic based incorporation of endophenotypes to improve risk prediction
🖥️ github.com/ekhar17/endo...
👉 www.cell.com/hgg-advances...

New research in @hggadvances.bsky.social's shows that MED13L variants disrupt mitochondrial function, uncovering an intersection between transcriptional control & mitochondrial homeostasis with implications for future therapeutic development: https://bit.ly/4hjIchn #ASHG #humangenetics

🧬New from Ganapathi et al!
📄A homozygous missense variant in NRROS is associated with intracranial calcifications, neurodegeneration, and severe infantile epilepsy syndrome
👉 www.cell.com/hgg-advances...

Register for the GREGoR Ancillary Session at #ASHG26! The session "Putting the pieces together: Multi-Omic Data from the GREGoR Consortium, Variant Matching with seqr, and Analysis with AnVIL" will be held on 10/23 at 12 pm. Find more info at gregorconsortium.org/events/grego... and register by 10/8

Congratulations to the recipients of the 2026 ASHG Publication Awards! 🎉
Each year, ASHG journal editorial boards honor 4 outstanding articles for exceptional contributions to scientific discovery.
Meet the recipients: https://bit.ly/4yQcQVm
@ajhgnews.bsky.social @hggadvances.bsky.social

Using lentiMPRA, @hggadvances.bsky.social latest article identifies a variant that impacts CCDC88C expression, potentially influencing breast cancer risk & prognosis. This work shows the potential for large-scale assays to assist in prioritizing disease-relevant variants: https://bit.ly/4hDKsjt

🧬New from Ye & co!
📄A variance QTL approach to uncover gene-fish oil supplement interaction loci for 14 circulating unsaturated fatty acid traits
👉 www.cell.com/hgg-advances...

🧬New from Mackie et al!
📄Massively parallel functional profiling prioritizes #breastcancer risk variants and implicates CCDC88C in ER-positive breast cancer
👉 www.cell.com/hgg-advances...

Today, ASHG is at the #RallyforMedicalResearch on Capitol Hill to urge Congress to support robust, sustainable NIH funding in FY2027 and beyond.

Can't join us in DC? Take action through ASHG's advocacy alert and help make medical research a national priority ➡️ https://bit.ly/4dGA9bW

Orofacial clefts (OFCs) are common, yet their origins remain complex & highly varied. @hggadvances.bsky.social latest study identifies subtype-specific genetic associations in cleft lip, highlighting the importance of in-depth characterization of OFC subtypes: https://bit.ly/4hds282 #ASHG

The best rates for #ASHG26 close TODAY at 5 PM U.S. ET. Secure your spot before rates increase and join the researchers, clinicians, and industry professionals shaping the future of human genetics and genomics in Montréal: https://bit.ly/4o3wfxM #ASHG #HumanGenetics

@hggadvances.bsky.social sat with Carissa Sherman, PhD, and Betzaida Maldonado in the latest "Inside HGGA" to discuss their recently published paper, “Underrepresented Voices in a Colorado Biobank.”➡️ https://bit.ly/4r7swB4 #ASHG #HumanGenetics #GeneticsDiscoveries

🧬New from Herrick et al!
📄Trio-based #GWAS reveals loci associated with different forms of isolated cleft lip
👉 www.cell.com/hgg-advances...

@hggadvances.bsky.social latest article shows that long-read sequencing aligned to the T2T-CHM13 reference genome improves variant detection across the β-globin locus in Africans with sickle cell disease: https://www.cell.com/hgg-advances/fulltext/S2666-2477(26)00109-0 #ASHG #HumanGenetics

🧬New from Jandu et al!
📄Inherited Predisposition to Increased Systemic Inflammation Predicts a Broad Class of Disease Phenotypes
👉 www.cell.com/hgg-advances...

🧬 New from Campbell et al!
📄Cyclin C nuclear release and mitochondrial dysfunction define molecular signatures of MED13L Syndrome
👉 www.cell.com/hgg-advances...

🧬New from Lurie et al!
📄Long-read Sequences Mapped to a Complete Reference Genome Uncover Uncaptured Structural Variants across the Beta-globin Cluster in Africans with Sickle Cell Disease
👉 www.cell.com/hgg-advances...

@mikelove.bsky.social, @rrsharp.bsky.social, & co of @hggadvances.bsky.social's latest article demonstrate that social risk factors confer substantial explanatory power beyond genetic liability alone: https://bit.ly/4x4qCCC #ASHG #HumanGenetics #GeneticsDiscoveries