The American Journal of Human Genetics
@ajhgnews.bsky.social
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
.@cpicpgx.org
📄The Clinical Pharmacogenetics Implementation Consortium’s consensus-based framework for assigning allele function
.@cpicpgx.org
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
.@cpicpgx.org
📄The Clinical Pharmacogenetics Implementation Consortium’s consensus-based framework for assigning allele function
.@cpicpgx.org
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...
Reposted by The American Journal of Human Genetics
Diagnosing #RareDiseases can be challenging, but new innovations, improved coordination, and system and policy-level approaches can improve #diagnosis.
Register for our upcoming workshop to learn about ways to address challenges in #RareDisease diagnosis: https://ow.ly/pXkz50Xjio3
Register for our upcoming workshop to learn about ways to address challenges in #RareDisease diagnosis: https://ow.ly/pXkz50Xjio3
October 29, 2025 at 5:01 PM
Diagnosing #RareDiseases can be challenging, but new innovations, improved coordination, and system and policy-level approaches can improve #diagnosis.
Register for our upcoming workshop to learn about ways to address challenges in #RareDisease diagnosis: https://ow.ly/pXkz50Xjio3
Register for our upcoming workshop to learn about ways to address challenges in #RareDisease diagnosis: https://ow.ly/pXkz50Xjio3
Reposted by The American Journal of Human Genetics
#FruitFlies offer new insights into how human #AlzheimersDisease risk #genes affect the #brain. J. Deger, J. Shulman, H. Bellen et al. #bcmneurology #bcm_neurosci @bcmgenetics.bsky.social #TCHResearchNews @ajhgnews.bsky.social www.bcm.edu/news/fruit-f...
Fruit flies offer new insights into how human Alzheimer’s Disease risk genes affect the brain
Researchers at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children’s Hospital offer...
www.bcm.edu
October 29, 2025 at 4:31 PM
#FruitFlies offer new insights into how human #AlzheimersDisease risk #genes affect the #brain. J. Deger, J. Shulman, H. Bellen et al. #bcmneurology #bcm_neurosci @bcmgenetics.bsky.social #TCHResearchNews @ajhgnews.bsky.social www.bcm.edu/news/fruit-f...
Reposted by The American Journal of Human Genetics
This Friday! Join our Journal Club to discuss the implications of subcontinental genetic variation.
📖 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...
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...
October 29, 2025 at 2:02 PM
This Friday! Join our Journal Club to discuss the implications of subcontinental genetic variation.
📣New from Deger et al! 🪰🧬
📄Revealing the nervous system requirements of #Alzheimer disease risk genes in Drosophila
📄Revealing the nervous system requirements of #Alzheimer disease risk genes in Drosophila
Revealing the nervous system requirements of Alzheimer disease risk genes in Drosophila
We characterized 100 conserved Alzheimer disease risk genes in Drosophila, uncovering
dozens with previously unknown roles in brain structure, function, and stress resilience.
These findings reveal pa...
www.cell.com
October 29, 2025 at 2:48 PM
📣New from Deger et al! 🪰🧬
📄Revealing the nervous system requirements of #Alzheimer disease risk genes in Drosophila
📄Revealing the nervous system requirements of #Alzheimer disease risk genes in Drosophila
Reposted by The American Journal of Human Genetics
📖 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...
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...
October 6, 2025 at 4:38 PM
📖 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...
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...
🎉Spotlight on this year's Outstanding Trainee Publication Award winner Yu Fu
👉Role of X chromosome and dosage-compensation mechanisms in complex trait genetics
📄 tinyurl.com/53v4ucpa
📹 tinyurl.com/57ddavd9
👉Role of X chromosome and dosage-compensation mechanisms in complex trait genetics
📄 tinyurl.com/53v4ucpa
📹 tinyurl.com/57ddavd9
October 23, 2025 at 3:48 PM
🎉Spotlight on this year's Outstanding Trainee Publication Award winner Yu Fu
👉Role of X chromosome and dosage-compensation mechanisms in complex trait genetics
📄 tinyurl.com/53v4ucpa
📹 tinyurl.com/57ddavd9
👉Role of X chromosome and dosage-compensation mechanisms in complex trait genetics
📄 tinyurl.com/53v4ucpa
📹 tinyurl.com/57ddavd9