The American Journal of Human Genetics
@ajhgnews.bsky.social
📤 471
📥 335
📝 173
https://www.cell.com/AJHG/home
reposted by
The American Journal of Human Genetics
Seth D. Temple
about 14 hours ago
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...
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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…
https://www.sciencedirect.com/science/article/pii/S000292972500360X
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📣New from
@sdtemple.bsky.social
& Browning! 📄Multiple-testing corrections in selection scans using identity-by-descent segments
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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...
https://www.cell.com/ajhg/fulltext/S0002-9297(25)00360-X
about 15 hours ago
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📣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
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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...
https://www.cell.com/ajhg/abstract/S0002-9297(25)00358-1
about 17 hours ago
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reposted by
The American Journal of Human Genetics
Sally Ann Lynch
2 days ago
www.cell.com/ajhg/abstrac...
🧪🧪 enormous effort, years in the making
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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...
https://www.cell.com/ajhg/abstract/S0002-9297(25)00357-X?_returnURL=https%3A%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS000292972500357X%3Fshowall%3Dtrue
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reposted by
The American Journal of Human Genetics
American Society of Human Genetics (ASHG)
1 day ago
@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
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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...
https://www.cell.com/ajhg/abstract/S0002-9297(25)00350-7
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📣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...
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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...
https://www.cell.com/ajhg/abstract/S0002-9297(25)00357-X
4 days ago
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reposted by
The American Journal of Human Genetics
Austin Reynolds
4 days ago
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...
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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...
https://www.cell.com/ajhg/fulltext/S0002-9297(25)00322-2
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📣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...
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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...
https://www.cell.com/ajhg/fulltext/S0002-9297(25)00322-2
4 days ago
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📣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...
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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 ...
https://www.cell.com/ajhg/fulltext/S0002-9297(25)00359-3
4 days ago
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reposted by
The American Journal of Human Genetics
Stefan Barakat
7 days ago
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
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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…
https://www.sciencedirect.com/science/article/pii/S0002929725003209
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📣New from
@vijayganesh.bsky.social
& co! 📄Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
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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...
https://www.cell.com/ajhg/abstract/S0002-9297(25)00350-7
8 days ago
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📣New from Mekzine et al! 📄Allele-specific RNAi therapy corrects an extracellular matrix defect in Schuurs-Hoeijmakers syndrome
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Allele-specific RNAi therapy corrects an extracellular matrix defect in Schuurs-Hoeijmakers syndrome
Allele-specific RNA interference silences the mutant PACS1 transcript causing Schuurs-Hoeijmakers syndrome, a rare neurodevelopmental disorder. RNA sequencing of cells from affected individuals reveal...
https://www.cell.com/ajhg/abstract/S0002-9297(25)00280-0
9 days ago
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📣New from Wang et al! 📄Genetic architecture and analysis practices of circulating metabolites in the NHLBI Trans-Omics for Precision Medicine Program
#TOPMed
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Genetic architecture and analysis practices of circulating metabolites in the NHLBI Trans-Omics for Precision Medicine Program
We cataloged 1,729 circulating metabolites from two metabolomics core laboratories among eight studies. We provided recommendations for TOPMed metabolite data harmonization and processing. We also pro...
https://www.cell.com/ajhg/abstract/S0002-9297(25)00356-8
9 days ago
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📣New from Liu et al! 📄Unveiling tissue heterogeneity through genomic interaction-encoded image representation of
#RNASeq
data
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Unveiling tissue heterogeneity through genomic interaction-encoded image representation of RNA-sequencing data
This study analyzes RNA-sequencing data by converting gene-expression profiles into images that encode gene-gene interactions. This image-based representation, processed through deep learning to extra...
https://www.cell.com/ajhg/abstract/S0002-9297(25)00355-6
10 days ago
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📣Online now! 📄Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants
#ClinGen
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Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants
The HBOP VCEP developed PALB2-specific ACMG/AMP variant interpretation guidelines by tailoring, limiting, or removing existing codes. Testing on 39 pilot variants improved concordance with ClinVar and...
https://www.cell.com/ajhg/fulltext/S0002-9297(25)00352-0
10 days ago
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reposted by
The American Journal of Human Genetics
IOB - Institute of Molecular and Clinical Ophthalmology Basel
10 days ago
🧬 How can we navigate the genetic complexity of inherited retinal diseases? Our new paper in
@ajhgnews.bsky.social
presents RetiGene, a curated atlas of IRD genes, built with
@erdc-team.bsky.social
, to support diagnosis, research and therapy. 👉
bit.ly/467U1S9
#AcademicBlueSky
#IRDs
#VisionResearch
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📣Online now! 📄RetiGene, a comprehensive gene atlas for inherited retinal diseases 🧑🤝🧑
@carlorivolta.bsky.social
@mquinodoz.bsky.social
& co
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RetiGene, a comprehensive gene atlas for inherited retinal diseases
RetiGene is an expert-curated atlas of genes involved in inherited retinal diseases, integrating variant data and gene expression. This open-access, continually updated resource aims to support varian...
https://www.cell.com/ajhg/fulltext/S0002-9297(25)00349-0#sec-11
11 days ago
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reposted by
The American Journal of Human Genetics
Chris Gunter 🧬
11 days ago
PSA: To find grants from a specific institute/center in the new
grants.gov
format, you can search by the “Assistance Listing” number for the specific IC. NHGRI’s number is 93.172.
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📣New today! 📄Landscapes of missense variant impact for human superoxide dismutase 1 🧑🤝🧑
@axakova.bsky.social
@fritzroth.bsky.social
& co
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Landscapes of missense variant impact for human superoxide dismutase 1
SOD1 variants cause the motor neuron disease amyotrophic lateral sclerosis. Axakova et al. functionally assay ∼86% of all possible SOD1 missense variants, producing a variant-effect map resource that ...
https://www.cell.com/ajhg/fulltext/S0002-9297(25)00351-9
12 days ago
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📣New method! 📄MosCoverY: A method to estimate mosaic loss of Y chromosome from sequencing coverage data
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MosCoverY: A method to estimate mosaic loss of Y chromosome from sequencing coverage data
Mosaic loss of the Y chromosome (mLOY) is the most common somatic mutation in men. Its frequency increases with age, and it is associated with various diseases. Here, we present MosCoverY, a method th...
https://www.cell.com/ajhg/fulltext/S0002-9297(25)00326-X
15 days ago
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reposted by
The American Journal of Human Genetics
Cell Press
16 days ago
Our human ancestors from across the globe evolved in response to shortages and surpluses of micronutrients like iron, calcium, and zinc.
spkl.io/63323AuOVP
@ajhgnews.bsky.social
Jasmin Rees, Sergi Castellano, &
@aidaandres.bsky.social
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reposted by
The American Journal of Human Genetics
Aida Andres
16 days ago
Jasmin Rees PhD chapter as a paper just out at the AJHG
@ajhgnews.bsky.social
, with Sergi Castellano, who first envisioned the study. Jas investigated signatures of human local genetic adaptation in hundreds of micronutrient-associated genes.
add a skeleton here at some point
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25
16
reposted by
The American Journal of Human Genetics
American Society of Human Genetics (ASHG)
15 days ago
Overall adiposity & tissue-specific fat accumulation are associated w/ altered risk of cardiometabolic disease & mortality.
@ajhgnews.bsky.social
's latest article identifies genes linked w/ fat accumulation, including SLTM, PPARG, & COL5A3: https://bit.ly/46hofRB #ASHG
@ceclindgren.bsky.social
#ASHG
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Read more about the latest work from
@aidaandres.bsky.social
& co!
add a skeleton here at some point
16 days ago
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📣New from Yousaf et al! 📄Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder
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Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder
Deleterious bi-allelic variants in SNAPIN, a key autophagy-lysosome pathway mediator, underlie a severe prenatal-onset neurodevelopmental syndrome. Zebrafish models recapitulate human phenotypes and r...
https://www.cell.com/ajhg/fulltext/S0002-9297(25)00325-8
17 days ago
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📣New from
@aidaandres.bsky.social
& co 📄Global impact of micronutrients in modern human evolution
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Global impact of micronutrients in modern human evolution
In this study, Rees et al. evaluate the role of dietary micronutrients in driving local genetic adaptation and population differentiation in humans. The authors find evidence that micronutrient-associ...
https://www.cell.com/ajhg/fulltext/S0002-9297(25)00315-5
17 days ago
0
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📣New from
@clare-turnbull.bsky.social
& co! 📄Availability of benign missense variant “truthsets” for validation of functional assays: Current status and a systematic approach
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Availability of benign missense variant “truthsets” for validation of functional assays: Current status and a systematic approach
Quantification of applicable evidence strength for experimental functional assays requires truthsets including missense variants. Examples of benign missense variants with high-confidence ClinVar clas...
https://www.cell.com/ajhg/abstract/S0002-9297(25)00324-6
17 days ago
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New today! 📄Combining evidence from human genetic and functional screens to identify pathways altering obesity and fat distribution 🧑🤝🧑
@ceclindgren.bsky.social
@astheeggeggs.bsky.social
& co
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Combining evidence from human genetic and functional screens to identify pathways altering obesity and fat distribution
Overall and tissue-specific fat accumulation are associated with altered risk of cardiometabolic disease and mortality. By combining exome-wide association analysis of traits related to obesity and fa...
https://www.cell.com/ajhg/fulltext/S0002-9297(25)00323-4
23 days ago
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Our September issue is online--check it out🧑💻🧬🧑💻
www.cell.com/ajhg/current
23 days ago
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reposted by
The American Journal of Human Genetics
Martha Bhattacharya
24 days ago
🧪🧠👩🔬 Hey, check it out! New research from our lab with lots of collaborators! We found a new genetic cause of common neurodevelopmental syndromes (thin corpus callosum, developmental delay and seizures) and explain why they happen!
add a skeleton here at some point
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📣New from
@marthabhattacharya.bsky.social
& co! 📄Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling
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Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling
De novo TMEM184B variants in six children are associated with neurodevelopmental deficits hallmarked by developmental delay, corpus callosum hypoplasia, seizures, and/or microcephaly. Studies in zebra...
https://www.cell.com/ajhg/fulltext/S0002-9297(25)00314-3
25 days ago
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📣New from Zhang et al! 📄Knockoff procedure improves susceptibility gene identifications in conditional
#TWAS
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Knockoff procedure improves susceptibility gene identifications in conditional transcriptome-wide association studies
TWASKnockoff advances transcriptome-wide association studies by identifying susceptibility genes through conditional testing that accounts for expression and genetic correlations. Using GWAS summary s...
https://www.cell.com/ajhg/abstract/S0002-9297(25)00317-9
25 days ago
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📣New from Robinson et al! 📄Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy
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Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy
De novo missense variants in PRKCI are loss of function and disrupt periderm, resulting in a heterogeneous phenotype including orofacial clefts, clinical features of Van der Woude syndrome, and relate...
https://www.cell.com/ajhg/abstract/S0002-9297(25)00318-0
25 days ago
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📣New from Dias et al! 📄Evaluating multi-ancestry
#GWAS
methods: Statistical power, population structure, and practical implications
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Evaluating multi-ancestry genome-wide association methods: Statistical power, population structure, and practical implications
Multi-ancestry GWASs enhance discovery in diverse populations, but optimal methods remain debated. Using theory, simulations, and analyses from the UK Biobank and All of Us, we show that pooled analys...
https://www.cell.com/ajhg/abstract/S0002-9297(25)00316-7
25 days ago
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reposted by
The American Journal of Human Genetics
Peter Kraft
25 days ago
Multi-ancestry GWAS can increase power and precision, but how should we analyze them? Pooled or stratified? We answer that question in a paper out today in AJHG, led by Julie Dias and Haoyu Zhang. 1/7
www.cell.com/ajhg/fulltex...
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Evaluating multi-ancestry genome-wide association methods: Statistical power, population structure, and practical implications
Multi-ancestry GWASs enhance discovery in diverse populations, but optimal methods remain debated. Using theory, simulations, and analyses from the UK Biobank and All of Us, we show that pooled analys...
https://www.cell.com/ajhg/fulltext/S0002-9297(25)00316-7
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10
reposted by
The American Journal of Human Genetics
American Society of Human Genetics (ASHG)
29 days ago
@ajhgnews.bsky.social
sat with Florin Ratajczak, MS, in the latest "Inside AJHG" to discuss his recently published paper, “Exploring the omnigenic architecture of selected complex traits.”➡️
www.ashg.org/ajhg/inside-...
#ASHG
#GeneticsDiscoveries
#HumanGenetics
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reposted by
The American Journal of Human Genetics
Aligning Science Across Parkinson's
25 days ago
👏 Thank you,
@ajhgnews.bsky.social
, for spotlighting GP2’s impact! We’re proud to see the consortium’s work advancing genetic discovery across diverse populations.
add a skeleton here at some point
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You won't want to miss our next journal club--register today!
add a skeleton here at some point
25 days ago
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reposted by
The American Journal of Human Genetics
American Society of Human Genetics (ASHG)
30 days ago
In
@ajhgnews.bsky.social
latest Perspective article, members of the Global Parkinson’s Genetics Program (GP2) describe how this international consortium is advancing research aimed at deciphering the genetic basis of Parkinson’s Disease across populations.
@asapresearch.parkinsonsroadmap.org
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Tackling a disease on a global scale, the Global Parkinson’s Genetics Program, GP2: A new generation of opportunities
The Global Parkinson’s Genetics Program (GP2) is an international effort to understand the genetic basis of Parkinson disease across diverse populations. GP2 aims to generate and share genetic data fo...
https://www.cell.com/ajhg/fulltext/S0002-9297(25)00284-8
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reposted by
The American Journal of Human Genetics
The Science of Parkinson's
about 1 month ago
New perspective the Global
#Parkinsons
Genetics Program (GP2) team provides a roadmap detailing how they are tackling the lack of diversity in PD genetics research & reflects on 5 years of progress
www.cell.com/ajhg/fulltex...
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reposted by
The American Journal of Human Genetics
Human Genetics and Genomics Advances
about 1 month ago
Applications are due today!!
add a skeleton here at some point
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📣New from Wentworth et al! 📄Single-cell analysis of human fibrous dysplasia bone reveals a fibrotic transcriptome and GNAS variants in endothelial, perivascular, and stromal cells
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Single-cell analysis of human fibrous dysplasia bone reveals a fibrotic transcriptome and GNAS variants in endothelial, perivascular, and stromal cells
Fibrous dysplasia is a debilitating skeletal dysplasia caused by somatic, mosaic GNAS variants. Single-cell RNA sequencing combined with single-cell GNAS genotyping on FD and non-FD human bone reveale...
https://www.cell.com/ajhg/fulltext/S0002-9297(25)00288-5
about 1 month ago
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📣New from Browning & Browning! 📄Estimating gene conversion rates from population data using multi-individual identity by descent
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Estimating gene conversion rates from population data using multi-individual identity by descent
We present a method for inferring multi-individual identity by descent that allows for allele mismatches due to genotype error, mutation, and gene conversion. We use this method to detect autosomal ge...
https://www.cell.com/ajhg/fulltext/S0002-9297(25)00289-7
about 1 month ago
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reposted by
The American Journal of Human Genetics
From the Labs at Baylor College of Medicine
about 1 month ago
Computational tool helps determine if a condition such as
#Parkinsons
arises from several mutations or one rare variant. C. Shaw, J. Belmont, J. Shulman et al
@riceuniversity.bsky.social
@bcmhouston.bsky.social
#TCHResearchNews
@ajhgnews.bsky.social
@bcmhgsc.bsky.social
blogs.bcm.edu/2025/08/21/f...
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Statistical tool reveals genetic drivers of complex human diseases paving the way for personalized genetic medicine
The Causal Pivot accounts for genetic diversity within a disease and can be adapted to the clinic of tomorrow.
https://blogs.bcm.edu/2025/08/21/from-the-labs-statistical-tool-reveals-genetic-drivers-of-complex-human-diseases-paving-the-way-for-personalized-genetic-medicine/
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reposted by
The American Journal of Human Genetics
From the Labs at Baylor College of Medicine
about 1 month ago
Researchers at
@riceuniversity.bsky.social
,
@bcmhouston.bsky.social
and
#TexasChildren's
Hospital
#DuncanNRI
are paving the way to better clinical diagnoses.
@ajhgnews.bsky.social
www.bcm.edu/news/new-sta...
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New statistical tool reveals hidden genetic pathways in complex diseases
A collaboration including Rice University, Baylor College of Medicine and Texas Children’s Hospital’s Jan and Dan Duncan Neurological Research Institute...
https://www.bcm.edu/news/new-statistical-tool-reveals-hidden-genetic-pathways-in-complex-diseases
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reposted by
The American Journal of Human Genetics
Aoxing Liu
about 1 month ago
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)!! 💘
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📣New from @davidaknowles.bsky.social & co! 📄Leveraging functional annotations to map rare variants associated with
#Alzheimer
disease with gruyere
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Leveraging functional annotations to map rare variants associated with Alzheimer disease with gruyere
This study introduces genome-wide rare variant enrichment evaluation (gruyere), a Bayesian framework for rare variant association studies that improves variant prioritization by learning a trait-speci...
https://www.cell.com/ajhg/abstract/S0002-9297(25)00286-1
about 1 month ago
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0
reposted by
The American Journal of Human Genetics
Human Genetics and Genomics Advances
3 months ago
We're seeking our next EiC! Are you passionate about human genetics & open science? Apply at
apply.ashg.org/a/page/hgga-...
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📣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
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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 ...
https://www.cell.com/ajhg/abstract/S0002-9297(25)00287-3
about 1 month ago
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8
6
reposted by
The American Journal of Human Genetics
American Society of Human Genetics (ASHG)
about 1 month ago
@mjbetti.bsky.social
& co of
@ajhgnews.bsky.social
latest article performed a comprehensive multi-ancestry genetic analysis of lung cancer, identifying four genomic regions linked to disease susceptibility & biological pathways relevant to cancer and lung function:
www.cell.com/ajhg/abstrac...
#ASHG
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