Joint Spherical-Harmonics Regression for PheWAS: Global Maps, Residual Localization, and Spherical-Cap Enrichment https://www.biorxiv.org/content/10.1101/2025.10.27.684843v1
October 28, 2025 at 6:33 PM
Joint Spherical-Harmonics Regression for PheWAS: Global Maps, Residual Localization, and Spherical-Cap Enrichment https://www.biorxiv.org/content/10.1101/2025.10.27.684843v1
Joint Spherical-Harmonics Regression for PheWAS: Global Maps, Residual Localization, and Spherical-Cap Enrichment https://www.biorxiv.org/content/10.1101/2025.10.27.684843v1
October 28, 2025 at 6:33 PM
Joint Spherical-Harmonics Regression for PheWAS: Global Maps, Residual Localization, and Spherical-Cap Enrichment https://www.biorxiv.org/content/10.1101/2025.10.27.684843v1
Neuroimaging PheWAS and molecular phenotyping implicate PSMC3 in Alzheimer's Disease #NeuroDegeneration 🧪🧠
http://medrxiv.org/cgi/content/short/2025.09.18.25336095v1
http://medrxiv.org/cgi/content/short/2025.09.18.25336095v1
September 19, 2025 at 4:02 PM
Neuroimaging PheWAS and molecular phenotyping implicate PSMC3 in Alzheimer's Disease #NeuroDegeneration 🧪🧠
http://medrxiv.org/cgi/content/short/2025.09.18.25336095v1
http://medrxiv.org/cgi/content/short/2025.09.18.25336095v1
Neuroimaging PheWAS and molecular phenotyping implicate PSMC3 in Alzheimer's Disease https://www.medrxiv.org/content/10.1101/2025.09.18.25336095v1
September 19, 2025 at 2:40 PM
Neuroimaging PheWAS and molecular phenotyping implicate PSMC3 in Alzheimer's Disease https://www.medrxiv.org/content/10.1101/2025.09.18.25336095v1
This is the start of a new focus of study. Let's go get it. Up next, @emilyvansyoc.bsky.social has a story on evolutionary aspects of gut fungal communities in humans and our closest ancestors. Until then, it is fungal fun with this this GWAS and PheWAS:
doi.org/10.1371/jour...
doi.org/10.1371/jour...
Gut fungi are associated with human genetic variation and disease risk
In contrast to decades of research on gut bacteria, human genetic determinants of the gut fungal community (mycobiome) remain understudied. This investigation presents the first GWAS on the number and...
doi.org
September 2, 2025 at 7:38 PM
This is the start of a new focus of study. Let's go get it. Up next, @emilyvansyoc.bsky.social has a story on evolutionary aspects of gut fungal communities in humans and our closest ancestors. Until then, it is fungal fun with this this GWAS and PheWAS:
doi.org/10.1371/jour...
doi.org/10.1371/jour...
Finally, we performed a phenome-wide association study (PheWAS) in FinnGen to systematically assess whether our IL-6 genetic proxy is associated with any additional outcomes beyond those already studied.
August 27, 2025 at 2:02 PM
Finally, we performed a phenome-wide association study (PheWAS) in FinnGen to systematically assess whether our IL-6 genetic proxy is associated with any additional outcomes beyond those already studied.
Our trisomy work is now online! 🚀
Got curious after reading our short PheWAS paper? 👀
Catch me 🌠 & my talk 🎤 this October at #ASHG25 in Boston!
Yes, I am still endlessly curious about sex chromosome aneuploidies - whether it's somatic (X/Y loss) or germline (trisomies)!! 💘
Got curious after reading our short PheWAS paper? 👀
Catch me 🌠 & my talk 🎤 this October at #ASHG25 in Boston!
Yes, I am still endlessly curious about sex chromosome aneuploidies - whether it's somatic (X/Y loss) or germline (trisomies)!! 💘
August 20, 2025 at 11:25 PM
Our trisomy work is now online! 🚀
Got curious after reading our short PheWAS paper? 👀
Catch me 🌠 & my talk 🎤 this October at #ASHG25 in Boston!
Yes, I am still endlessly curious about sex chromosome aneuploidies - whether it's somatic (X/Y loss) or germline (trisomies)!! 💘
Got curious after reading our short PheWAS paper? 👀
Catch me 🌠 & my talk 🎤 this October at #ASHG25 in Boston!
Yes, I am still endlessly curious about sex chromosome aneuploidies - whether it's somatic (X/Y loss) or germline (trisomies)!! 💘
📣Online now!
📄 #PheWAS of male and female sex chromosome trisomies in 1.5 million participants of MVP, FinnGen, and UK Biobank
@finngen.bsky.social @ukbiobank.bsky.social
📄 #PheWAS of male and female sex chromosome trisomies in 1.5 million participants of MVP, FinnGen, and UK Biobank
@finngen.bsky.social @ukbiobank.bsky.social
Phenome-wide association study of male and female sex chromosome trisomies in 1.5 million participants of MVP, FinnGen, and UK Biobank
We examined disease associations for sex chromosome trisomies (SCTs) by performing
a phenome-wide association study in 2,769 individuals with SCT (47,XXY: 1,319; 47,XYY:
1,108; and 47,XXX: 342). Many ...
www.cell.com
August 20, 2025 at 4:06 PM
📣Online now!
📄 #PheWAS of male and female sex chromosome trisomies in 1.5 million participants of MVP, FinnGen, and UK Biobank
@finngen.bsky.social @ukbiobank.bsky.social
📄 #PheWAS of male and female sex chromosome trisomies in 1.5 million participants of MVP, FinnGen, and UK Biobank
@finngen.bsky.social @ukbiobank.bsky.social
New "big data" analysis tool called #mixWAS reported to be more powerful than #PheWAS and #MultiPhen in detecting associations across mixed-type phenotypes. #eMERGE data involved. Study in Patterns www.cell.com/patterns/ful...
A one-shot, lossless algorithm for cross-cohort learning in mixed-outcomes analysis
Li et al. present mixWAS, a one-shot, lossless algorithm for cross-cohort analysis
of mixed outcomes using summary statistics. Applied to EHR data from seven US cohorts,
mixWAS identified over 4,500 S...
www.cell.com
July 31, 2025 at 4:05 PM
New "big data" analysis tool called #mixWAS reported to be more powerful than #PheWAS and #MultiPhen in detecting associations across mixed-type phenotypes. #eMERGE data involved. Study in Patterns www.cell.com/patterns/ful...
The sex-linked ornaments instead show loci of very large effect at copy number variants. The locus of largest effect for orange pattern is at texim, a gene with many duplications to the Y. For black, the largest effect loci is prex1, an X-linked CNV with a know role in NCC migration.
July 1, 2025 at 6:13 PM
The sex-linked ornaments instead show loci of very large effect at copy number variants. The locus of largest effect for orange pattern is at texim, a gene with many duplications to the Y. For black, the largest effect loci is prex1, an X-linked CNV with a know role in NCC migration.
Using data from over 330,000 UK Biobank participants, we:
- Built a polygenic risk score for vascular dementia
- Ran a large-scale, age-stratified PheWAS across 9,000+ traits
- Followed up key associations using two-sample Mendelian randomization
- Built a polygenic risk score for vascular dementia
- Ran a large-scale, age-stratified PheWAS across 9,000+ traits
- Followed up key associations using two-sample Mendelian randomization
June 25, 2025 at 4:06 PM
Using data from over 330,000 UK Biobank participants, we:
- Built a polygenic risk score for vascular dementia
- Ran a large-scale, age-stratified PheWAS across 9,000+ traits
- Followed up key associations using two-sample Mendelian randomization
- Built a polygenic risk score for vascular dementia
- Ran a large-scale, age-stratified PheWAS across 9,000+ traits
- Followed up key associations using two-sample Mendelian randomization
Using data from over 330,000 UK Biobank participants, we:
- Built a polygenic risk score for vascular dementia
- Ran a large-scale, age-stratified PheWAS across 9,000+ traits
- Followed up key associations using two-sample Mendelian randomization
- Built a polygenic risk score for vascular dementia
- Ran a large-scale, age-stratified PheWAS across 9,000+ traits
- Followed up key associations using two-sample Mendelian randomization
June 25, 2025 at 4:04 PM
Using data from over 330,000 UK Biobank participants, we:
- Built a polygenic risk score for vascular dementia
- Ran a large-scale, age-stratified PheWAS across 9,000+ traits
- Followed up key associations using two-sample Mendelian randomization
- Built a polygenic risk score for vascular dementia
- Ran a large-scale, age-stratified PheWAS across 9,000+ traits
- Followed up key associations using two-sample Mendelian randomization
This paper used a PheWAS-type approach, examining all common conditions that could be affected by GLP1Ragonists. This approach could be applied broadly.
June 12, 2025 at 10:08 AM
This paper used a PheWAS-type approach, examining all common conditions that could be affected by GLP1Ragonists. This approach could be applied broadly.
🙏🙏🙏 Huge thanks to all who made this possible:
– Authors who shared their GWAS summary statistics to the public domain, with special thanks to @npirastu.bsky.social for sharing their #UKBiobank results!
– Online platforms that enable #PheWAS analysis: Open Targets, #IEUOpenGWAS, #GWASAtlas
– Authors who shared their GWAS summary statistics to the public domain, with special thanks to @npirastu.bsky.social for sharing their #UKBiobank results!
– Online platforms that enable #PheWAS analysis: Open Targets, #IEUOpenGWAS, #GWASAtlas
June 12, 2025 at 12:08 AM
🙏🙏🙏 Huge thanks to all who made this possible:
– Authors who shared their GWAS summary statistics to the public domain, with special thanks to @npirastu.bsky.social for sharing their #UKBiobank results!
– Online platforms that enable #PheWAS analysis: Open Targets, #IEUOpenGWAS, #GWASAtlas
– Authors who shared their GWAS summary statistics to the public domain, with special thanks to @npirastu.bsky.social for sharing their #UKBiobank results!
– Online platforms that enable #PheWAS analysis: Open Targets, #IEUOpenGWAS, #GWASAtlas
🗓️ #DDW2025 Schedule – IBDGC Presentations
📍Oral Talks
🧬 Michelle Bao – PheWAS | Sat 5/17 @ 10:00am
🧬 Michelle Bao – Perturb-seq | Sun 5/18 @ 11:30am
🧪 Michiel Bak – Micronutrients | Mon 5/19 @ 9:15am
🌎 Ashley Beecham – Ancestry in U.S. Hispanics | Mon 5/19 @ 4:00pm
📍Oral Talks
🧬 Michelle Bao – PheWAS | Sat 5/17 @ 10:00am
🧬 Michelle Bao – Perturb-seq | Sun 5/18 @ 11:30am
🧪 Michiel Bak – Micronutrients | Mon 5/19 @ 9:15am
🌎 Ashley Beecham – Ancestry in U.S. Hispanics | Mon 5/19 @ 4:00pm
May 1, 2025 at 5:12 PM
🗓️ #DDW2025 Schedule – IBDGC Presentations
📍Oral Talks
🧬 Michelle Bao – PheWAS | Sat 5/17 @ 10:00am
🧬 Michelle Bao – Perturb-seq | Sun 5/18 @ 11:30am
🧪 Michiel Bak – Micronutrients | Mon 5/19 @ 9:15am
🌎 Ashley Beecham – Ancestry in U.S. Hispanics | Mon 5/19 @ 4:00pm
📍Oral Talks
🧬 Michelle Bao – PheWAS | Sat 5/17 @ 10:00am
🧬 Michelle Bao – Perturb-seq | Sun 5/18 @ 11:30am
🧪 Michiel Bak – Micronutrients | Mon 5/19 @ 9:15am
🌎 Ashley Beecham – Ancestry in U.S. Hispanics | Mon 5/19 @ 4:00pm
🚨 Headed to #DDW2025?
Catch the IBDGC team with high-impact oral presentations! 🔬🧬🎤
• M. Bao – PheWAS of Monogenic IBD Genes
• M. Bao – Perturb-seq in Monocytes
• M. Bak – Micronutrients & Recurrence
• A. Beecham – Ancestry in U.S. Hispanics
#IBD #GIresearch #Genomics #DDW25
Catch the IBDGC team with high-impact oral presentations! 🔬🧬🎤
• M. Bao – PheWAS of Monogenic IBD Genes
• M. Bao – Perturb-seq in Monocytes
• M. Bak – Micronutrients & Recurrence
• A. Beecham – Ancestry in U.S. Hispanics
#IBD #GIresearch #Genomics #DDW25
April 30, 2025 at 7:25 PM
🚨 Headed to #DDW2025?
Catch the IBDGC team with high-impact oral presentations! 🔬🧬🎤
• M. Bao – PheWAS of Monogenic IBD Genes
• M. Bao – Perturb-seq in Monocytes
• M. Bak – Micronutrients & Recurrence
• A. Beecham – Ancestry in U.S. Hispanics
#IBD #GIresearch #Genomics #DDW25
Catch the IBDGC team with high-impact oral presentations! 🔬🧬🎤
• M. Bao – PheWAS of Monogenic IBD Genes
• M. Bao – Perturb-seq in Monocytes
• M. Bak – Micronutrients & Recurrence
• A. Beecham – Ancestry in U.S. Hispanics
#IBD #GIresearch #Genomics #DDW25
..This covers one-sample and two-sample approaches, sensitivity analyses including pleiotropy-robust methods, multivariable MR for mediation and interaction, within-family MR, MR-PheWAS and drug target MR...
April 28, 2025 at 9:34 AM
..This covers one-sample and two-sample approaches, sensitivity analyses including pleiotropy-robust methods, multivariable MR for mediation and interaction, within-family MR, MR-PheWAS and drug target MR...
Mining EHR data to identify individuals with multiple congenital anomalies using billing #Phecodes - should minor anomalies be excluded? #Bioinformatics #PheWAS @Megan_M_Shuey bit.ly/42cTLiL
April 16, 2025 at 12:10 AM
Mining EHR data to identify individuals with multiple congenital anomalies using billing #Phecodes - should minor anomalies be excluded? #Bioinformatics #PheWAS @Megan_M_Shuey bit.ly/42cTLiL
Additional analyses included:
👉PheWAS of all detected loci and etiological clustering based on the derived associations
👉Colocalization of top loci with risk factors
👉Polygenic risk score development for HF and testing in UK Biobank
👉Single-cell and tissue expression enrichment of top genes
4/5
👉PheWAS of all detected loci and etiological clustering based on the derived associations
👉Colocalization of top loci with risk factors
👉Polygenic risk score development for HF and testing in UK Biobank
👉Single-cell and tissue expression enrichment of top genes
4/5
March 8, 2025 at 9:43 PM
Additional analyses included:
👉PheWAS of all detected loci and etiological clustering based on the derived associations
👉Colocalization of top loci with risk factors
👉Polygenic risk score development for HF and testing in UK Biobank
👉Single-cell and tissue expression enrichment of top genes
4/5
👉PheWAS of all detected loci and etiological clustering based on the derived associations
👉Colocalization of top loci with risk factors
👉Polygenic risk score development for HF and testing in UK Biobank
👉Single-cell and tissue expression enrichment of top genes
4/5
The study applied a Phenome-Wide Association Study (PheWAS) method to data from six cohorts of diverse ancestries, including European, African, East Asian, and Hispanic populations, to explore the links between genetically predicted height and various diseases.
March 3, 2025 at 2:08 PM
The study applied a Phenome-Wide Association Study (PheWAS) method to data from six cohorts of diverse ancestries, including European, African, East Asian, and Hispanic populations, to explore the links between genetically predicted height and various diseases.
Phenome-wide association studies (PheWAS) are a powerful tool for uncovering drug repurposing opportunities and unexpected side effects of novel targets📊 🧬
The best open-access resources for PheWAS analyses👇
The best open-access resources for PheWAS analyses👇
February 17, 2025 at 4:50 PM
Phenome-wide association studies (PheWAS) are a powerful tool for uncovering drug repurposing opportunities and unexpected side effects of novel targets📊 🧬
The best open-access resources for PheWAS analyses👇
The best open-access resources for PheWAS analyses👇
Exactly! That's the danger.
All the lead snps in their phewas site, the supplementary tables and extracted to the gwas catalog are affected.
All the lead snps in their phewas site, the supplementary tables and extracted to the gwas catalog are affected.
February 11, 2025 at 6:03 PM
Exactly! That's the danger.
All the lead snps in their phewas site, the supplementary tables and extracted to the gwas catalog are affected.
All the lead snps in their phewas site, the supplementary tables and extracted to the gwas catalog are affected.
Exciting Summer2025 #Internship: I have two computational biology internship openings in San Diego! Tackle RNAi therapeutics via multi-omics (GWAS, PheWAS, eQTL) & AI-driven target discovery with LLMs. Apply now!
#ComputationalBiology #Bioinformatics #Internship
www.linkedin.com/posts/shg047...
#ComputationalBiology #Bioinformatics #Internship
www.linkedin.com/posts/shg047...
Shicheng Guo on LinkedIn: Summer Intern, Computational Biology - Arrowhead Pharmaceuticals, Inc.
Exciting 2025 Summer Internship Opportunity in Translational Genetics Arrowhead Pharmaceuticals! We are looking for two passionate computational biology…
www.linkedin.com
February 11, 2025 at 4:26 AM
Exciting Summer2025 #Internship: I have two computational biology internship openings in San Diego! Tackle RNAi therapeutics via multi-omics (GWAS, PheWAS, eQTL) & AI-driven target discovery with LLMs. Apply now!
#ComputationalBiology #Bioinformatics #Internship
www.linkedin.com/posts/shg047...
#ComputationalBiology #Bioinformatics #Internship
www.linkedin.com/posts/shg047...
From the National Human Genome Research Institute:
PheWAS analysis on large-scale biobank data with PheTK
www.medrxiv.org/content/10.1...
PheWAS analysis on large-scale biobank data with PheTK
www.medrxiv.org/content/10.1...
PheWAS analysis on large-scale biobank data with PheTK
Summary With the rapid growth of genetic data linked to electronic health record data in huge cohorts, large-scale phenome-wide association study (PheWAS), have become powerful discovery tools in biom...
www.medrxiv.org
February 7, 2025 at 2:59 PM
From the National Human Genome Research Institute:
PheWAS analysis on large-scale biobank data with PheTK
www.medrxiv.org/content/10.1...
PheWAS analysis on large-scale biobank data with PheTK
www.medrxiv.org/content/10.1...
PheWAS can be very useful for drug development, especially for novel targets❗️
The derived signals can be used to inform selection to phase 2/3 trials, safety endpoints in phase 3, and guide development towards new indications.
🔗link to our PheWAS for IL6R: ahajournals.org/doi/10.1161/...
13/17
The derived signals can be used to inform selection to phase 2/3 trials, safety endpoints in phase 3, and guide development towards new indications.
🔗link to our PheWAS for IL6R: ahajournals.org/doi/10.1161/...
13/17
ahajournals.org
February 2, 2025 at 5:05 PM
PheWAS can be very useful for drug development, especially for novel targets❗️
The derived signals can be used to inform selection to phase 2/3 trials, safety endpoints in phase 3, and guide development towards new indications.
🔗link to our PheWAS for IL6R: ahajournals.org/doi/10.1161/...
13/17
The derived signals can be used to inform selection to phase 2/3 trials, safety endpoints in phase 3, and guide development towards new indications.
🔗link to our PheWAS for IL6R: ahajournals.org/doi/10.1161/...
13/17