The American Journal of Human Genetics
@ajhgnews.bsky.social
Reposted by The American Journal of Human Genetics
Breaking: New Perspective Released. Published in @ajhgnews.bsky.social, we provide a policy analysis highlighting the importance of responsible data sharing in human genetics and genomics research to build sustainable partnerships and a cohesive information ecosystem: www.ashg.org/advocacy/per...
November 20, 2025 at 4:09 PM
Breaking: New Perspective Released. Published in @ajhgnews.bsky.social, we provide a policy analysis highlighting the importance of responsible data sharing in human genetics and genomics research to build sustainable partnerships and a cohesive information ecosystem: www.ashg.org/advocacy/per...
Reposted by The American Journal of Human Genetics
Circulating proteins play crucial roles in complex diseases, yet pQTL studies in non-European populations remain limited. A new study in @ajhgnews.bsky.social uncovers protein associations w/ Arctic-enriched variants, underscoring the value of genomics in diverse populations: bit.ly/447lYYI #ASHG
November 19, 2025 at 9:11 PM
Circulating proteins play crucial roles in complex diseases, yet pQTL studies in non-European populations remain limited. A new study in @ajhgnews.bsky.social uncovers protein associations w/ Arctic-enriched variants, underscoring the value of genomics in diverse populations: bit.ly/447lYYI #ASHG
📣New from Bresack et al!
📄Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia
📄Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia
Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia
Heterozygous variants in ESRRG are associated with an autosomal-dominant, non-progressive
congenital movement disorder. Clinical characterization of eight individuals, supported
by in silico modeling ...
www.cell.com
November 19, 2025 at 6:43 PM
📣New from Bresack et al!
📄Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia
📄Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia
📣New today!
📄Training competencies and recommendations for the next generation of public health genetics: Reflections from current leaders in the field
🧑🤝🧑 @dianexue.bsky.social @genandgenes.bsky.social & co
📄Training competencies and recommendations for the next generation of public health genetics: Reflections from current leaders in the field
🧑🤝🧑 @dianexue.bsky.social @genandgenes.bsky.social & co
Training competencies and recommendations for the next generation of public health genetics: Reflections from current leaders in the field
As genomics becomes increasingly embedded in research, healthcare, and society, training
programs must adapt. Through focus groups with leaders across public health genetics
subfields, we developed up...
www.cell.com
November 19, 2025 at 6:40 PM
📣New today!
📄Training competencies and recommendations for the next generation of public health genetics: Reflections from current leaders in the field
🧑🤝🧑 @dianexue.bsky.social @genandgenes.bsky.social & co
📄Training competencies and recommendations for the next generation of public health genetics: Reflections from current leaders in the field
🧑🤝🧑 @dianexue.bsky.social @genandgenes.bsky.social & co
Reposted by The American Journal of Human Genetics
#apaperaday Today's pick is a commentary by Ahrens-Nicklas and Musunuru in @ajhgnews.bsky.social to the plausible mechanism publication in NEJM featured recently. The authors were involved in the individualized base editing therapy development (earlier #apaperaday). DOI: 10.1016/j.ajhg.2025.10.006
November 19, 2025 at 8:36 AM
#apaperaday Today's pick is a commentary by Ahrens-Nicklas and Musunuru in @ajhgnews.bsky.social to the plausible mechanism publication in NEJM featured recently. The authors were involved in the individualized base editing therapy development (earlier #apaperaday). DOI: 10.1016/j.ajhg.2025.10.006
📣New from Muller & colleagues!
📄Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability
📄Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability
Bi-allelic loss-of-function variants in protein arginine methyltransferase 9 (PRMT9)
cause a neurodevelopmental disorder with variable severity. Affected individuals have
mild to severe intellectual d...
www.cell.com
November 18, 2025 at 4:22 PM
📣New from Muller & colleagues!
📄Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability
📄Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability
Reposted by The American Journal of Human Genetics
Authors of @ajhgnews.bsky.social's latest article use ancestral recombination graph inference to trace the history of rare variants in Quebec. This approach could be used to inform rare disease screening programs across founder populations: www.cell.com/ajhg/abstrac... #ASHG #HumanGenetics
Using the ancestral recombination graph to study the history of rare variants in founder populations
This study statistically traces the transmission history of rare alleles within genealogies
to impute carrier status and regional allele frequencies. It uses the approach to
find that imputed carriers...
www.cell.com
November 13, 2025 at 9:50 PM
Authors of @ajhgnews.bsky.social's latest article use ancestral recombination graph inference to trace the history of rare variants in Quebec. This approach could be used to inform rare disease screening programs across founder populations: www.cell.com/ajhg/abstrac... #ASHG #HumanGenetics
📣 New from @yosephbarash.bsky.social & co!
📄 A deep dive into statistical modeling of RNA splicing QTLs reveals variants that explain neurodegenerative disease
🖥️ bitbucket.org/majiqtl/maji...
📄 A deep dive into statistical modeling of RNA splicing QTLs reveals variants that explain neurodegenerative disease
🖥️ bitbucket.org/majiqtl/maji...
A deep dive into statistical modeling of RNA splicing QTLs reveals variants that explain neurodegenerative disease
Current methods for detecting splicing quantitative trait loci (sQTLs) miss many disease-associated
genetic variants. MAJIQTL introduces improved statistical modeling and comprehensive
splicing repres...
www.cell.com
November 12, 2025 at 5:45 PM
📣 New from @yosephbarash.bsky.social & co!
📄 A deep dive into statistical modeling of RNA splicing QTLs reveals variants that explain neurodegenerative disease
🖥️ bitbucket.org/majiqtl/maji...
📄 A deep dive into statistical modeling of RNA splicing QTLs reveals variants that explain neurodegenerative disease
🖥️ bitbucket.org/majiqtl/maji...
📣 New from Stinson et al.
📄 Genetic regulation of the plasma proteome and its link to cardiometabolic disease in Greenlandic Inuit
📄 Genetic regulation of the plasma proteome and its link to cardiometabolic disease in Greenlandic Inuit
Genetic regulation of the plasma proteome and its link to cardiometabolic disease in Greenlandic Inuit
We conducted a protein quantitative trait locus (pQTL) study in 3,707 Greenlanders,
identifying 251 associations, including 70 novel signals. We compared variance explained
with Europeans from the UK ...
www.cell.com
November 12, 2025 at 5:42 PM
📣 New from Stinson et al.
📄 Genetic regulation of the plasma proteome and its link to cardiometabolic disease in Greenlandic Inuit
📄 Genetic regulation of the plasma proteome and its link to cardiometabolic disease in Greenlandic Inuit
Reposted by The American Journal of Human Genetics
"How to create personalized gene editing platforms: Next steps towards interventional genetics" spkl.io/63326AbgN6
@ahrensnicklas.bsky.social & @kiranmusunuru.bsky.social
@ajhgnews.bsky.social
@ahrensnicklas.bsky.social & @kiranmusunuru.bsky.social
@ajhgnews.bsky.social
November 11, 2025 at 5:00 PM
"How to create personalized gene editing platforms: Next steps towards interventional genetics" spkl.io/63326AbgN6
@ahrensnicklas.bsky.social & @kiranmusunuru.bsky.social
@ajhgnews.bsky.social
@ahrensnicklas.bsky.social & @kiranmusunuru.bsky.social
@ajhgnews.bsky.social
Reposted by The American Journal of Human Genetics
🚨Proud to have co-authored this paper with an incredible team! We propose practical reporting standards to improve transparency, reproducibility, and data stewardship in paleogenomics 🧬🦴
📣 New from @dnatimetravel.bsky.social & co!
📄 Lessons learned: Recommendations for reproducible paleogenomic data analyses
👉 bit.ly/494k2ni
📄 Lessons learned: Recommendations for reproducible paleogenomic data analyses
👉 bit.ly/494k2ni
November 7, 2025 at 2:35 PM
🚨Proud to have co-authored this paper with an incredible team! We propose practical reporting standards to improve transparency, reproducibility, and data stewardship in paleogenomics 🧬🦴
Reposted by The American Journal of Human Genetics
The pharmacogenetics community needs transparent, evidence-based gene-drug guidelines. @ajhgnews.bsky.social' latest article outlines @cpicpgx.org’s framework to assign allele function & encourages global feedback to boost clinical adoption: www.cell.com/ajhg/abstrac... #ASHG
The Clinical Pharmacogenetics Implementation Consortium’s consensus-based framework for assigning allele function
The Clinical Pharmacogenetics Implementation Consortium (CPIC) is dedicated to integrating
pharmacogenetic testing into clinical practice by developing and disseminating peer-reviewed,
evidence-based ...
www.cell.com
November 6, 2025 at 7:15 PM
The pharmacogenetics community needs transparent, evidence-based gene-drug guidelines. @ajhgnews.bsky.social' latest article outlines @cpicpgx.org’s framework to assign allele function & encourages global feedback to boost clinical adoption: www.cell.com/ajhg/abstrac... #ASHG
Our November issue is out!
Check out the latest human #genetics & #genomics research
👉 www.cell.com/ajhg/current
Check out the latest human #genetics & #genomics research
👉 www.cell.com/ajhg/current
November 6, 2025 at 4:36 PM
Our November issue is out!
Check out the latest human #genetics & #genomics research
👉 www.cell.com/ajhg/current
Check out the latest human #genetics & #genomics research
👉 www.cell.com/ajhg/current
📣 New from @dnatimetravel.bsky.social & co!
📄 Lessons learned: Recommendations for reproducible paleogenomic data analyses
👉 bit.ly/494k2ni
📄 Lessons learned: Recommendations for reproducible paleogenomic data analyses
👉 bit.ly/494k2ni
November 5, 2025 at 5:18 PM
📣 New from @dnatimetravel.bsky.social & co!
📄 Lessons learned: Recommendations for reproducible paleogenomic data analyses
👉 bit.ly/494k2ni
📄 Lessons learned: Recommendations for reproducible paleogenomic data analyses
👉 bit.ly/494k2ni
📣New from Park & Xing!
📄Origins and implications of intron retention quantitative trait loci in human tissues
📄Origins and implications of intron retention quantitative trait loci in human tissues
Origins and implications of intron retention quantitative trait loci in human tissues
Intron retention is an important form of RNA variation. We mapped intron retention
quantitative trait loci (irQTLs) in human tissues. irQTLs can generate expression
quantitative trait loci (eQTLs) thr...
www.cell.com
November 4, 2025 at 4:04 PM
📣New from Park & Xing!
📄Origins and implications of intron retention quantitative trait loci in human tissues
📄Origins and implications of intron retention quantitative trait loci in human tissues
📣New today!
📄The Clinical Pharmacogenetics Implementation Consortium’s consensus-based framework for assigning allele function
[email protected]
📄The Clinical Pharmacogenetics Implementation Consortium’s consensus-based framework for assigning allele function
[email protected]
The Clinical Pharmacogenetics Implementation Consortium’s consensus-based framework for assigning allele function
The Clinical Pharmacogenetics Implementation Consortium (CPIC) is dedicated to integrating
pharmacogenetic testing into clinical practice by developing and disseminating peer-reviewed,
evidence-based ...
www.cell.com
October 31, 2025 at 7:11 PM
📣New today!
📄The Clinical Pharmacogenetics Implementation Consortium’s consensus-based framework for assigning allele function
[email protected]
📄The Clinical Pharmacogenetics Implementation Consortium’s consensus-based framework for assigning allele function
[email protected]
Read more about how doctors at CHOP are advancing personalized gene editing therapy (tinyurl.com/23c5vzd9)
October 31, 2025 at 7:07 PM
Read more about how doctors at CHOP are advancing personalized gene editing therapy (tinyurl.com/23c5vzd9)
Read more about today's paper (tinyurl.com/23c5vzd9) from @ahrensnicklas.bsky.social & @kiranmusunuru.bsky.social that discusses regulatory innovation in the pathway toward interventional genetics!
Personalized gene editing helped one baby: can it be rolled out widely?
In a world first, a bespoke gene-editing therapy benefitted one child. Now reseachers plan to launch a clinical trial of the approach.
www.nature.com
October 31, 2025 at 6:47 PM
Read more about today's paper (tinyurl.com/23c5vzd9) from @ahrensnicklas.bsky.social & @kiranmusunuru.bsky.social that discusses regulatory innovation in the pathway toward interventional genetics!
Reposted by The American Journal of Human Genetics
Can personalized treatment become the standard of care? Just published in @ajhgnews.bsky.social, @kiranmusunuru.bsky.social, MD, PhD, and @ahrensnicklas.bsky.social, MD, PhD, explore their vision for the future of interventional genetics: www.cell.com/ajhg/fulltex... #ASHG #HumanGenetics
How to create personalized gene editing platforms: Next steps toward interventional genetics
How do we go from a single individual receiving a personalized gene-editing therapy
to a future of “interventional genetics” in which such therapies are the standard
of care? First and foremost: regul...
www.cell.com
October 31, 2025 at 3:57 PM
Can personalized treatment become the standard of care? Just published in @ajhgnews.bsky.social, @kiranmusunuru.bsky.social, MD, PhD, and @ahrensnicklas.bsky.social, MD, PhD, explore their vision for the future of interventional genetics: www.cell.com/ajhg/fulltex... #ASHG #HumanGenetics
Tune in soon to hear more from @kiranmusunuru.bsky.social & @ahrensnicklas.bsky.social !!
The scientists behind Baby KJ’s life-saving CRISPR therapy have a plan to help more patients. Join me and @drewsnews.bsky.social at 9:45 for a conversation with UPenn's Kiran Musunuru and CHOP's Rebecca Ahrens-Nicklas to learn more! @endpts.com endpoints.news/post-hoc-liv...
Watch at 9:45 a.m.: Meet the scientists behind Baby KJ’s life-saving CRISPR therapy
U Penn's Musunuru and CHOP's Ahrens-Nicklas discuss plans to expand Baby KJ's custom CRISPR therapy for rare genetic diseases into an FDA-approved treatment.
endpoints.news
October 31, 2025 at 1:34 PM
Tune in soon to hear more from @kiranmusunuru.bsky.social & @ahrensnicklas.bsky.social !!
Reposted by The American Journal of Human Genetics
In this article, SCGE researchers Rebecca Ahrens-Nicklas and Kiran Musunuru discuss the next steps towards creating personalized gene editing platforms.
Read the full paper at: www.cell.com/ajhg/fulltex...
@ahrensnicklas.bsky.social @kiranmusunuru.bsky.social
Read the full paper at: www.cell.com/ajhg/fulltex...
@ahrensnicklas.bsky.social @kiranmusunuru.bsky.social
How to create personalized gene editing platforms: Next steps toward interventional genetics
How do we go from a single individual receiving a personalized gene-editing therapy
to a future of “interventional genetics” in which such therapies are the standard
of care? First and foremost: regul...
www.cell.com
October 31, 2025 at 1:13 PM
In this article, SCGE researchers Rebecca Ahrens-Nicklas and Kiran Musunuru discuss the next steps towards creating personalized gene editing platforms.
Read the full paper at: www.cell.com/ajhg/fulltex...
@ahrensnicklas.bsky.social @kiranmusunuru.bsky.social
Read the full paper at: www.cell.com/ajhg/fulltex...
@ahrensnicklas.bsky.social @kiranmusunuru.bsky.social
🚨Online NOW!!
📄How to create personalized gene editing platforms: Next steps toward interventional genetics
🧑🤝🧑 @ahrensnicklas.bsky.social & @kiranmusunuru.bsky.social
📄How to create personalized gene editing platforms: Next steps toward interventional genetics
🧑🤝🧑 @ahrensnicklas.bsky.social & @kiranmusunuru.bsky.social
How to create personalized gene editing platforms: Next steps toward interventional genetics
How do we go from a single individual receiving a personalized gene-editing therapy
to a future of “interventional genetics” in which such therapies are the standard
of care? First and foremost: regul...
www.cell.com
October 31, 2025 at 1:03 PM
🚨Online NOW!!
📄How to create personalized gene editing platforms: Next steps toward interventional genetics
🧑🤝🧑 @ahrensnicklas.bsky.social & @kiranmusunuru.bsky.social
📄How to create personalized gene editing platforms: Next steps toward interventional genetics
🧑🤝🧑 @ahrensnicklas.bsky.social & @kiranmusunuru.bsky.social
Reposted by The American Journal of Human Genetics
#FruitFlies Shed Light on How Human #Alzheimer’s Risk #Genes Impact the #Brain. J. Deger, J. Shulman, H. Bellen et al. #bcmneurology #bcm_neurosci @bcmhouston.bsky.social @bcmgenetics.bsky.social #TCHResearchNews @ajhgnews.bsky.social bioengineer.org/fruit-flies-...
Fruit Flies Shed Light on How Human Alzheimer’s Risk Genes Impact the
In a groundbreaking endeavor to unravel the genetic complexities underpinning Alzheimer’s disease, scientists from Baylor College of Medicine and the Jan and Dan Duncan Neurological Research I
bioengineer.org
October 30, 2025 at 3:51 PM
#FruitFlies Shed Light on How Human #Alzheimer’s Risk #Genes Impact the #Brain. J. Deger, J. Shulman, H. Bellen et al. #bcmneurology #bcm_neurosci @bcmhouston.bsky.social @bcmgenetics.bsky.social #TCHResearchNews @ajhgnews.bsky.social bioengineer.org/fruit-flies-...
📣 New from Johnatty et al!
📄BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict #breastcancer risk in heterozygotes
📄BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict #breastcancer risk in heterozygotes
BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes
The recessive Fanconi anemia phenotype is used to classify BRCA1, BRCA2, and PALB2
variants with respect to dominant hereditary breast-ovarian cancer syndrome. Phenotype-genotype
analysis of 178 indiv...
www.cell.com
October 30, 2025 at 3:42 PM
📣 New from Johnatty et al!
📄BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict #breastcancer risk in heterozygotes
📄BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict #breastcancer risk in heterozygotes
📣New from Mejia-Garcia et al.!
📄Using the ancestral recombination graph to study the history of rare variants in founder populations
🖥️ github.com/almejiaga/AR...
📄Using the ancestral recombination graph to study the history of rare variants in founder populations
🖥️ github.com/almejiaga/AR...
Using the ancestral recombination graph to study the history of rare variants in founder populations
This study statistically traces the transmission history of rare alleles within genealogies
to impute carrier status and regional allele frequencies. It uses the approach to
find that imputed carriers...
www.cell.com
October 30, 2025 at 3:39 PM
📣New from Mejia-Garcia et al.!
📄Using the ancestral recombination graph to study the history of rare variants in founder populations
🖥️ github.com/almejiaga/AR...
📄Using the ancestral recombination graph to study the history of rare variants in founder populations
🖥️ github.com/almejiaga/AR...