Lightnews — Scholar-powered news

Reposted by The American Journal of Human Genetics

American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 1d

📍Save your Spot! Coming in November: two exciting webinars you won’t want to miss—
🗓️11/12 | Meeting the Moment: Impactful Science Communication & Education on Genetics
🗓️11/19 | Exploring Genes and Variants in Human Pangenome Assemblies
Register: https://learning.ashg.org/ #ASHG

1 1

Reposted by The American Journal of Human Genetics

American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 2d

@ajhgnews.bsky.social sat with Julie-Alexia Dias, MSc, in the latest "Inside AJHG" to discuss her recently published paper, “Evaluating multi-ancestry genome-wide association methods: statistical power, population structure, and practical implications.”➡️ ashg.org/ajhg/inside-... #ASHG #humangenetics

2 2

The American Journal of Human Genetics @ajhgnews.bsky.social · 2d

Read more about this exciting work! www.genomeweb.com/sequencing/g...

'Genomic-First' Search in Geisinger MyCode Participants Reveals Undetected Rare Disease Variants

Researchers profiled 2,701 rare disease genes in the exomes of 218,680 Geisinger MyCode participants, uncovering positive findings in 2.5 percent of them.

www.genomeweb.com

1 1

Reposted by The American Journal of Human Genetics

Gen Wojcik @genandgenes.bsky.social · 2d

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 · 2d

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

7 7

Reposted by The American Journal of Human Genetics

ELSIhub | CERA @elsihub.bsky.social · 2d

📖 Join us for the next ELSI Journal Club session!
Subcontinental genetic variation in the All of Us Research Program: Implications for biomedical research
Published on @ajhgnews.bsky.social
🗓 October 31, 2025 | 🕛 12–1 p.m. ET
📍 Online via Zoom
🔗 Register here: us06web.zoom.us/meeting/regi...

1 3

Reposted by The American Journal of Human Genetics

Gen Wojcik @genandgenes.bsky.social · 2d

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

1 5 12

The American Journal of Human Genetics @ajhgnews.bsky.social · 2d

📣New from Robinson et al!
📄Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 818 trios

Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 818 trios

Cleft palate probands are globally enriched for protein-altering de novo variants, and gene-specific enrichment was found for seven cleft-related genes. Differences in individuals with syndromic versu...

www.cell.com

4

The American Journal of Human Genetics @ajhgnews.bsky.social · 2d

📣New today!
📄A scalable approach for genomic-first rare disorder detection in a healthcare-based population
🧑‍🤝‍🧑 @karynotype.bsky.social & @geisinger.bsky.social colleagues

A scalable approach for genomic-first rare disorder detection in a healthcare-based population

Beyond commonly screened disorders, genomic-first ascertainment of genetic disorders remains underexplored. We developed a scalable framework for 2,701 additional rare genetic disorders, identifying p...

www.cell.com

1 1 6

Reposted by The American Journal of Human Genetics

Karyn Meltz Murphy @karynotype.bsky.social · 2d

I’m pleased as punch to share our hot off the presses article in @ajhgnews.bsky.social : A scalable approach for genomic-first rare disorder detection in a healthcare-based population

Also presenting next week at #ashg25 #ashg2025

www.cell.com/ajhg/abstrac...

A scalable approach for genomic-first rare disorder detection in a healthcare-based population

Beyond commonly screened disorders, genomic-first ascertainment of genetic disorders remains underexplored. We developed a scalable framework for 2,701 additional rare genetic disorders, identifying p...

www.cell.com

1 2 12

Reposted by The American Journal of Human Genetics

American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 5d

@ajhgnews.bsky.social latest study uncovers regulatory splicing elements & implicates RNA-binding proteins hnRNPF & hnRNPAB in VHL exon 2 regulation. The authors highlight limitations of current prediction tools & provide insights into VHL-related molecular pathogenesis: www.cell.com/ajhg/abstrac...

2 4

The American Journal of Human Genetics @ajhgnews.bsky.social · 6d

Our October issue is online! Check out the latest human #genetics & #genomics research!
www.cell.com/ajhg/current

2 5

Reposted by The American Journal of Human Genetics

Aligning Science Across Parkinson's @asapresearch.parkinsonsroadmap.org · 6d

GP2 joined Patrick Short, PhD, on #TheGeneticsPodcast to discuss their publication in @ajhgnews.bsky.social, noting the scientific importance of diversifying genetic representation in #ParkinsonsResearch and how GP2 empowers scientists worldwide to lead research locally 🧪

🎧 bit.ly/4mHbCFp

Screenshot from The Genetics Podcast featuring three speakers in a split-screen format. On the left, the person wearing a headset is Sonya Dumanis, PhD, Deputy Director of ASAP. In the center, Patrick Short, PhD, host of the podcast, is smiling with their hand resting near their chin. On the right, Andrew Singleton, PhD, GP2 Co-Lead, is smiling. Logos for The Genetics Podcast and Sano Genetics appear in the top corners.

2 4

Reposted by The American Journal of Human Genetics

American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 7d

⏰ TODAY at NOON ET, we’re giving you all the details you'll need to make your #ASHG25 experience in Boston one to beat! Join our webinar for:

✅Pro tips on navigating the event
✅Live Q&A
✅Must-have resources

Register now: learning.ashg.org/products/ash... @renatopolimanti.bsky.social #ASHG

3 2

The American Journal of Human Genetics @ajhgnews.bsky.social · 8d

📣New from Erkut et al!
📄A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the #eIF3 complex component genes EIF3A and EIF3B

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B

Loss-of-function variants in EIF3A and EIF3B can lead to a variable multisystem congenital disorder, primarily involving cardiac anomalies, craniofacial differences, and mild neurodevelopmental featur...

www.cell.com

1

Reposted by The American Journal of Human Genetics

Seth D. Temple @sdtemple.bsky.social · 12d

The final thesis chapter is published OA at
@ajhgnews.bsky.social!
In short, we determine a valid significance level for a "selection" scan and apply it to 3 ancestry groups in 2 biobanks. 🧵 for updates from the helpful peer review.
www.sciencedirect.com/science/arti...

Multiple-testing corrections in selection scans using identity-by-descent segments

Failing to correct for multiple testing in selection scans can lead to false discoveries of recent genetic adaptations. The scanning statistics in sel…

www.sciencedirect.com

1 2 1

The American Journal of Human Genetics @ajhgnews.bsky.social · 12d

📣New from @sdtemple.bsky.social & Browning!
📄Multiple-testing corrections in selection scans using identity-by-descent segments

Multiple-testing corrections in selection scans using identity-by-descent segments

By modeling correlations along the genome, we determined significance levels for a scan of excess identity-by-descent sharing that help avoid reporting false positive results. Some large signals obser...

www.cell.com

3

The American Journal of Human Genetics @ajhgnews.bsky.social · 12d

📣New from Gardie & co!
📄Unraveling the impact of VHL exon 2 mutations in erythrocytosis or von Hippel-Lindau disease identified RNA-binding proteins involved in #VHL splicing

Unraveling the impact of VHL exon 2 mutations in erythrocytosis or von Hippel-Lindau disease identified RNA-binding proteins involved in VHL splicing

Mutations in VHL exon 2 associated with erythrocytosis or VHL disease affect both splicing and protein stability. This study uncovers regulatory splicing elements and implicates RNA-binding proteins h...

www.cell.com

2

Reposted by The American Journal of Human Genetics

Sally Ann Lynch @sorchainenil.bsky.social · 13d

www.cell.com/ajhg/abstrac...
🧪🧪 enormous effort, years in the making

Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders

Heterozygous de novo variants in the splicing factor SF1 cause a neurodevelopmental disorder with variable severity and autistic traits. Functional studies reveal that SF1 deficiency disrupts gene exp...

www.cell.com

4 8

Reposted by The American Journal of Human Genetics

American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 13d

@vijayganesh.bsky.social, @maggie-arriaga.bsky.social, & co. of @ajhgnews.bsky.social latest article highlights RNA sequencing in rare disease diagnosis using a transcriptome-wide approach to detect minor spliceosome disorders & generate variant-to-function interpretations. #ASHG #HumanGenetics

Transcriptome-wide outlier approach identifies individuals with minor spliceopathies

RNA sequencing in rare disease is conventionally used to resolve the effect of a variant on a single gene. Here, we apply a transcriptome-wide approach to detect disorders of the minor spliceosome. Th...

www.cell.com

3 3

The American Journal of Human Genetics @ajhgnews.bsky.social · 15d

📣New from Bou-Rouphael et al!
📄Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders
www.cell.com/ajhg/abstrac...

Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders

Heterozygous de novo variants in the splicing factor SF1 cause a neurodevelopmental disorder with variable severity and autistic traits. Functional studies reveal that SF1 deficiency disrupts gene exp...

www.cell.com

1

Reposted by The American Journal of Human Genetics

Austin Reynolds @awrgenes.bsky.social · 15d

I’ve got a new paper out today in @ajhgnews.bsky.social on sex-biased admixture patterns in South Africa. A long time in the making and thrilled to finally have it out! www.cell.com/ajhg/fulltex...

The Indian Ocean slave trade and colonial expansion resulted in strong sex-biased admixture in South Africa

Using genetic data from >1,200 South Africans, we examine admixture patterns from Cape Town to the historic colonial frontier’s northern edge, finding male-biased European ancestry and female-biased K...

www.cell.com

1 4

The American Journal of Human Genetics @ajhgnews.bsky.social · 15d

📣New from @awrgenes.bsky.social & co
📄The Indian Ocean slave trade and colonial expansion resulted in strong sex-biased admixture in South Africa
www.cell.com/ajhg/fulltex...

The Indian Ocean slave trade and colonial expansion resulted in strong sex-biased admixture in South Africa

Using genetic data from >1,200 South Africans, we examine admixture patterns from Cape Town to the historic colonial frontier’s northern edge, finding male-biased European ancestry and female-biased K...

www.cell.com

2 7

The American Journal of Human Genetics @ajhgnews.bsky.social · 15d

📣New from @klmohlke.bsky.social & co!
📄Skeletal muscle eQTL meta-analysis implicates genes in the genetic architecture of muscular and cardiometabolic traits
www.cell.com/ajhg/fulltex...

Skeletal muscle eQTL meta-analysis implicates genes in the genetic architecture of muscular and cardiometabolic traits

To investigate the underlying mechanisms of complex traits, we performed an eQTL meta-analysis in skeletal muscle and identified 18,818 conditionally distinct signals for 12,283 genes. Colocalization ...

www.cell.com

3 6

Reposted by The American Journal of Human Genetics

Stefan Barakat @stefanbarakat.bsky.social · 19d

New international collaborative work incl. our group @erasmusmc.bsky.social on MACF1 published @ajhgnews.bsky.social
A clinical and genotype-phenotype analysis of MACF1 variants www.sciencedirect.com/science/arti...
#raredisease #genetics

A clinical and genotype-phenotype analysis of MACF1 variants

Microtubule-actin cross-linking factor 1 (MACF1) is a large protein of the spectraplakin family, which is essential for brain development. MACF1 inter…

www.sciencedirect.com

2 5

The American Journal of Human Genetics @ajhgnews.bsky.social · 19d

📣New from @vijayganesh.bsky.social & co!
📄Transcriptome-wide outlier approach identifies individuals with minor spliceopathies

Transcriptome-wide outlier approach identifies individuals with minor spliceopathies

RNA sequencing in rare disease is conventionally used to resolve the effect of a variant on a single gene. Here, we apply a transcriptome-wide approach to detect disorders of the minor spliceosome. Th...

www.cell.com

1 3