Annals of Human Genetics
@ahgeditor.bsky.social
The Annals of Human Genetics, founded in 1925, aims to explore the causes and consequences of human genetic variation.
Editor-in-Chief is Dr Rosemary Ekong.
Editor-in-Chief is Dr Rosemary Ekong.
Today is World Pancreatic Cancer Day🟪
Pancreatic cancer is the 6th deadliest globally, with a five-year survival rate under 10%.
We highlight work in The Annals using whole-genome sequencing to identify rare variants in familial pancreatic cancer:
onlinelibrary.wiley.com/doi/10.1111/...
Pancreatic cancer is the 6th deadliest globally, with a five-year survival rate under 10%.
We highlight work in The Annals using whole-genome sequencing to identify rare variants in familial pancreatic cancer:
onlinelibrary.wiley.com/doi/10.1111/...
November 20, 2025 at 7:35 PM
Today is World Pancreatic Cancer Day🟪
Pancreatic cancer is the 6th deadliest globally, with a five-year survival rate under 10%.
We highlight work in The Annals using whole-genome sequencing to identify rare variants in familial pancreatic cancer:
onlinelibrary.wiley.com/doi/10.1111/...
Pancreatic cancer is the 6th deadliest globally, with a five-year survival rate under 10%.
We highlight work in The Annals using whole-genome sequencing to identify rare variants in familial pancreatic cancer:
onlinelibrary.wiley.com/doi/10.1111/...
An Early View: Whole-exome sequencing of 44 men with #asthenoteratozoospermia identified CFAP74 variants as potential causes of male #infertility.
Novel compound heterozygous and homozygous CFAP74 mutations were linked to flagellar defects and disrupted sperm morphology.
🔗: doi.org/10.1111/ahg....
Novel compound heterozygous and homozygous CFAP74 mutations were linked to flagellar defects and disrupted sperm morphology.
🔗: doi.org/10.1111/ahg....
October 27, 2025 at 2:22 PM
An Early View: Whole-exome sequencing of 44 men with #asthenoteratozoospermia identified CFAP74 variants as potential causes of male #infertility.
Novel compound heterozygous and homozygous CFAP74 mutations were linked to flagellar defects and disrupted sperm morphology.
🔗: doi.org/10.1111/ahg....
Novel compound heterozygous and homozygous CFAP74 mutations were linked to flagellar defects and disrupted sperm morphology.
🔗: doi.org/10.1111/ahg....
An Early View: A study of 133 children with suspected dyslipidemia in Türkiye used targeted NGS to explore the genetic basis of #pediatric lipid disorders.
Pathogenic variants were seen in 17% of cases, most often in LDLR, with novel variants found in LDLRAP1 and APOB.
🔗: doi.org/10.1111/ahg....
Pathogenic variants were seen in 17% of cases, most often in LDLR, with novel variants found in LDLRAP1 and APOB.
🔗: doi.org/10.1111/ahg....
October 20, 2025 at 10:28 AM
An Early View: A study of 133 children with suspected dyslipidemia in Türkiye used targeted NGS to explore the genetic basis of #pediatric lipid disorders.
Pathogenic variants were seen in 17% of cases, most often in LDLR, with novel variants found in LDLRAP1 and APOB.
🔗: doi.org/10.1111/ahg....
Pathogenic variants were seen in 17% of cases, most often in LDLR, with novel variants found in LDLRAP1 and APOB.
🔗: doi.org/10.1111/ahg....
An Early View: Findings from five-generation Polish family identified TMEM256 as a novel candidate gene for #clubfoot and implicates a known MYH3 variant in arthrogrypotic hand deformities.
🔗: onlinelibrary.wiley.com/doi/10.1111/...
🔗: onlinelibrary.wiley.com/doi/10.1111/...
October 2, 2025 at 10:27 AM
An Early View: Findings from five-generation Polish family identified TMEM256 as a novel candidate gene for #clubfoot and implicates a known MYH3 variant in arthrogrypotic hand deformities.
🔗: onlinelibrary.wiley.com/doi/10.1111/...
🔗: onlinelibrary.wiley.com/doi/10.1111/...
An Early View: A Mendelian randomization + bioinformatics study revealed 20 lipids that have a potential causal relationship with #Alzheimer's disease, #Parkinson's disease & epilepsy.
Findings suggest lipids may serve as biomarkers & therapeutic targets.
🔗: onlinelibrary.wiley.com/doi/full/10....
Findings suggest lipids may serve as biomarkers & therapeutic targets.
🔗: onlinelibrary.wiley.com/doi/full/10....
October 1, 2025 at 2:27 PM
An Early View: A Mendelian randomization + bioinformatics study revealed 20 lipids that have a potential causal relationship with #Alzheimer's disease, #Parkinson's disease & epilepsy.
Findings suggest lipids may serve as biomarkers & therapeutic targets.
🔗: onlinelibrary.wiley.com/doi/full/10....
Findings suggest lipids may serve as biomarkers & therapeutic targets.
🔗: onlinelibrary.wiley.com/doi/full/10....
Today marks World Alzheimer’s Day 🌍
In support of eliminating #Alzheimer’s disease, we highlight research published in The Annals that advances this objective.
🔍 FSH and AD: onlinelibrary.wiley.com/doi/10.1111/...
🔍 Drosophila amyloid toxicity model for AD: onlinelibrary.wiley.com/doi/10.1111/...
In support of eliminating #Alzheimer’s disease, we highlight research published in The Annals that advances this objective.
🔍 FSH and AD: onlinelibrary.wiley.com/doi/10.1111/...
🔍 Drosophila amyloid toxicity model for AD: onlinelibrary.wiley.com/doi/10.1111/...
Potential Causal Association Between Follicle‐Stimulating Hormone and Alzheimer's Disease: Genetic Loci Study and Mendelian Randomization Study
Background Alzheimer's disease (AD) predominantly affects older women, with research suggesting elevated follicle-stimulating hormone (FSH) levels in postmenopausal women correlate with AD risk and ...
onlinelibrary.wiley.com
September 21, 2025 at 8:54 AM
Today marks World Alzheimer’s Day 🌍
In support of eliminating #Alzheimer’s disease, we highlight research published in The Annals that advances this objective.
🔍 FSH and AD: onlinelibrary.wiley.com/doi/10.1111/...
🔍 Drosophila amyloid toxicity model for AD: onlinelibrary.wiley.com/doi/10.1111/...
In support of eliminating #Alzheimer’s disease, we highlight research published in The Annals that advances this objective.
🔍 FSH and AD: onlinelibrary.wiley.com/doi/10.1111/...
🔍 Drosophila amyloid toxicity model for AD: onlinelibrary.wiley.com/doi/10.1111/...
An Early View: A study reports a novel STAG1 splice-site variant linked to intellectual disability.
Whole exome sequencing and functional assays confirmed aberrant splicing, broadening the mutational and phenotypic spectrum of STAG1-related disorders.
🔗: onlinelibrary.wiley.com/doi/10.1111/...
Whole exome sequencing and functional assays confirmed aberrant splicing, broadening the mutational and phenotypic spectrum of STAG1-related disorders.
🔗: onlinelibrary.wiley.com/doi/10.1111/...
September 4, 2025 at 10:13 AM
An Early View: A study reports a novel STAG1 splice-site variant linked to intellectual disability.
Whole exome sequencing and functional assays confirmed aberrant splicing, broadening the mutational and phenotypic spectrum of STAG1-related disorders.
🔗: onlinelibrary.wiley.com/doi/10.1111/...
Whole exome sequencing and functional assays confirmed aberrant splicing, broadening the mutational and phenotypic spectrum of STAG1-related disorders.
🔗: onlinelibrary.wiley.com/doi/10.1111/...
An Early View: A study of 819 individuals from Buenaventura, Colombia, examined 5 key variants linked to #malaria resistance.
Resistance genotypes were most frequent in young adults (13–26) and insular communities, suggesting local adaptation.
🔗: onlinelibrary.wiley.com/doi/full/10....
Resistance genotypes were most frequent in young adults (13–26) and insular communities, suggesting local adaptation.
🔗: onlinelibrary.wiley.com/doi/full/10....
September 3, 2025 at 11:13 AM
An Early View: A study of 819 individuals from Buenaventura, Colombia, examined 5 key variants linked to #malaria resistance.
Resistance genotypes were most frequent in young adults (13–26) and insular communities, suggesting local adaptation.
🔗: onlinelibrary.wiley.com/doi/full/10....
Resistance genotypes were most frequent in young adults (13–26) and insular communities, suggesting local adaptation.
🔗: onlinelibrary.wiley.com/doi/full/10....
Reposted by Annals of Human Genetics
The Centenary Special Issue of The Annals of Human Genetics is now available!
First published in 1925, this special issue celebrates recent advances in human genetics, and features contributions from 13 @ucl.ac.uk researchers.
Check out the issue online: onlinelibrary.wiley.com/toc/14691809...
First published in 1925, this special issue celebrates recent advances in human genetics, and features contributions from 13 @ucl.ac.uk researchers.
Check out the issue online: onlinelibrary.wiley.com/toc/14691809...
August 18, 2025 at 10:36 AM
The Centenary Special Issue of The Annals of Human Genetics is now available!
First published in 1925, this special issue celebrates recent advances in human genetics, and features contributions from 13 @ucl.ac.uk researchers.
Check out the issue online: onlinelibrary.wiley.com/toc/14691809...
First published in 1925, this special issue celebrates recent advances in human genetics, and features contributions from 13 @ucl.ac.uk researchers.
Check out the issue online: onlinelibrary.wiley.com/toc/14691809...
📢The Annals of Human Genetics marks 100 years!🎉
Our Centenary Special Issue reflects on the journal’s history while celebrating recent advances and current investigations in human genetics, from statistical #genetics to #genomic medicine.
🔗 Read here: onlinelibrary.wiley.com/toc/14691809...
Our Centenary Special Issue reflects on the journal’s history while celebrating recent advances and current investigations in human genetics, from statistical #genetics to #genomic medicine.
🔗 Read here: onlinelibrary.wiley.com/toc/14691809...
August 18, 2025 at 10:02 AM
📢The Annals of Human Genetics marks 100 years!🎉
Our Centenary Special Issue reflects on the journal’s history while celebrating recent advances and current investigations in human genetics, from statistical #genetics to #genomic medicine.
🔗 Read here: onlinelibrary.wiley.com/toc/14691809...
Our Centenary Special Issue reflects on the journal’s history while celebrating recent advances and current investigations in human genetics, from statistical #genetics to #genomic medicine.
🔗 Read here: onlinelibrary.wiley.com/toc/14691809...
An Early View: Whole #exome sequencing in locally advanced rectal #cancer (LARC) reveals variants in SLC16A6 & SLC25A2 linked with poor neoadjuvant chemoradiotherapy (nCRT) response.
Findings point towards variants as predictors for tailored nCRT in LARC.
onlinelibrary.wiley.com/doi/10.1111/...
Findings point towards variants as predictors for tailored nCRT in LARC.
onlinelibrary.wiley.com/doi/10.1111/...
August 5, 2025 at 12:13 PM
An Early View: Whole #exome sequencing in locally advanced rectal #cancer (LARC) reveals variants in SLC16A6 & SLC25A2 linked with poor neoadjuvant chemoradiotherapy (nCRT) response.
Findings point towards variants as predictors for tailored nCRT in LARC.
onlinelibrary.wiley.com/doi/10.1111/...
Findings point towards variants as predictors for tailored nCRT in LARC.
onlinelibrary.wiley.com/doi/10.1111/...
An Early View: A systematic review of 33 GWAS-based polygenic risk score studies for #cancer in African ancestry populations highlights limited validation & clinical utility.
The authors call for more ancestry-specific #GWAS and standardized reporting to improve precision cancer risk prediction.
The authors call for more ancestry-specific #GWAS and standardized reporting to improve precision cancer risk prediction.
Polygenic Risk Score for Cancer in African Population: A Systematic Review
Purpose
The aim of this systematic review is to identify all genome-wide association study (GWAS)-based polygenic risk score (PRS) studies (with different PRS approaches) reported in African ancestr.....
onlinelibrary.wiley.com
August 4, 2025 at 12:30 PM
An Early View: A new commentary by @andyjmwalton.bsky.social, Dr Aylward, Prof Thomas, and Dr @adamrutherford.bsky.social revisit the intellectual origins of #panmixia, revealing how essentialist assumptions shaped its early adoption in evolutionary theory, long before the Modern Synthesis.
The History of the Panmictic Population Concept and Its Legacy in Contemporary Population Genetics
ABSTRACT The panmictic population concept is at the heart of population, evolutionary and conservation genetics. However, in nature, true panmictic populations are vanishingly rare. As an idea conce...
onlinelibrary.wiley.com
July 31, 2025 at 9:52 AM
An Early View: A new commentary by @andyjmwalton.bsky.social, Dr Aylward, Prof Thomas, and Dr @adamrutherford.bsky.social revisit the intellectual origins of #panmixia, revealing how essentialist assumptions shaped its early adoption in evolutionary theory, long before the Modern Synthesis.
An Early View: A new case report identifies compound heterozygous LOXHD1 variants in a North Indian family with ARNSHL, expanding the gene’s allelic and regional diversity.
Supports a broader inclusion of LOXHD1 in diagnostic panels.
🔗Read the full letter: onlinelibrary.wiley.com/doi/full/10....
Supports a broader inclusion of LOXHD1 in diagnostic panels.
🔗Read the full letter: onlinelibrary.wiley.com/doi/full/10....
July 30, 2025 at 9:52 AM
An Early View: A new case report identifies compound heterozygous LOXHD1 variants in a North Indian family with ARNSHL, expanding the gene’s allelic and regional diversity.
Supports a broader inclusion of LOXHD1 in diagnostic panels.
🔗Read the full letter: onlinelibrary.wiley.com/doi/full/10....
Supports a broader inclusion of LOXHD1 in diagnostic panels.
🔗Read the full letter: onlinelibrary.wiley.com/doi/full/10....
An Early View: #Genetic evidence supports a causal link between #GERD and myocardial infarction (MI).
Using Mendelian randomization, researchers found MI risk is partly mediated by hypertension and type 2 diabetes.
🔗Read the full article: onlinelibrary.wiley.com/doi/full/10....
Using Mendelian randomization, researchers found MI risk is partly mediated by hypertension and type 2 diabetes.
🔗Read the full article: onlinelibrary.wiley.com/doi/full/10....
July 29, 2025 at 10:31 AM
An Early View: #Genetic evidence supports a causal link between #GERD and myocardial infarction (MI).
Using Mendelian randomization, researchers found MI risk is partly mediated by hypertension and type 2 diabetes.
🔗Read the full article: onlinelibrary.wiley.com/doi/full/10....
Using Mendelian randomization, researchers found MI risk is partly mediated by hypertension and type 2 diabetes.
🔗Read the full article: onlinelibrary.wiley.com/doi/full/10....
World #Hepatitis Day 🌍
Despite vaccines and cures, hepatitis remains the 2nd leading infectious cause of death globally (@who.int).
We highlight Annals research on how host genetics shape chronic Hepatitis C.
🔗: onlinelibrary.wiley.com/doi/10.1111/...
🔗: onlinelibrary.wiley.com/doi/10.1111/...
Despite vaccines and cures, hepatitis remains the 2nd leading infectious cause of death globally (@who.int).
We highlight Annals research on how host genetics shape chronic Hepatitis C.
🔗: onlinelibrary.wiley.com/doi/10.1111/...
🔗: onlinelibrary.wiley.com/doi/10.1111/...
Glutathione S‐Transferase M1 and T1 Gene Polymorphisms and the Outcome of Chronic Hepatitis C Virus Infection in Egyptian Patients
We analysed the distribution of GSTM1 and GSTT1 gene polymorphisms in Egyptian patients with chronic hepatitis C, and investigated their relationship to the clinical outcome of chronic hepatitis C vi...
onlinelibrary.wiley.com
July 28, 2025 at 3:08 PM
World #Hepatitis Day 🌍
Despite vaccines and cures, hepatitis remains the 2nd leading infectious cause of death globally (@who.int).
We highlight Annals research on how host genetics shape chronic Hepatitis C.
🔗: onlinelibrary.wiley.com/doi/10.1111/...
🔗: onlinelibrary.wiley.com/doi/10.1111/...
Despite vaccines and cures, hepatitis remains the 2nd leading infectious cause of death globally (@who.int).
We highlight Annals research on how host genetics shape chronic Hepatitis C.
🔗: onlinelibrary.wiley.com/doi/10.1111/...
🔗: onlinelibrary.wiley.com/doi/10.1111/...
An Early View: A population #genetics study evaluated a custom 41-marker multi-InDel system for its forensic efficacy and ability to capture genetic diversity in Chinese Hezhou and Southern Shaanxi Han populations.
🔗Read the full article: onlinelibrary.wiley.com/doi/full/10....
🔗Read the full article: onlinelibrary.wiley.com/doi/full/10....
July 28, 2025 at 12:08 PM
An Early View: A population #genetics study evaluated a custom 41-marker multi-InDel system for its forensic efficacy and ability to capture genetic diversity in Chinese Hezhou and Southern Shaanxi Han populations.
🔗Read the full article: onlinelibrary.wiley.com/doi/full/10....
🔗Read the full article: onlinelibrary.wiley.com/doi/full/10....
An Early View: A new review by Prof Van Steensel (@4dmanifold.bsky.social) reframes acne as a disease of sebaceous progenitor cells, with #GWAS and molecular data implicating stem cell dynamics and Wingless signaling. This challenges long-held assumptions and points toward new therapeutic targets.
The Genetics of Acne
This review addresses the genetics of acne vulgaris, the most common skin disease. It is characterized by the presence of comedones (blackheads), papules, and pustules. The condition is associated wi...
onlinelibrary.wiley.com
July 25, 2025 at 9:16 AM
An Early View: A new review by Prof Van Steensel (@4dmanifold.bsky.social) reframes acne as a disease of sebaceous progenitor cells, with #GWAS and molecular data implicating stem cell dynamics and Wingless signaling. This challenges long-held assumptions and points toward new therapeutic targets.
An Early View: A new review by Prof Hodgson, Prof Foulkes, Prof Maher, and Prof @clare-turnbull.bsky.social traces the evolving landscape of inherited #cancer susceptibility, from tumor suppressor genes to polygenic risk scores. It highlights how genomic tools are reshaping treatment and detection.
Inherited Susceptibility to Cancer: Past, Present and Future
Germline pathogenic variants (GPVs, ‘mutations’) causing inherited susceptibility to certain cancers (cancer susceptibility genes, CSGs) broadly belong to one of two main classes—loss of function var...
onlinelibrary.wiley.com
July 23, 2025 at 11:45 AM
An Early View: A new review by Prof Hodgson, Prof Foulkes, Prof Maher, and Prof @clare-turnbull.bsky.social traces the evolving landscape of inherited #cancer susceptibility, from tumor suppressor genes to polygenic risk scores. It highlights how genomic tools are reshaping treatment and detection.
An Early View: Can follicle-stimulating hormone (FSH) influence #Alzheimer’s risk?
A Mendelian randomization study suggests a statistically significant inverse causal link between FSH and AD, pointing to a protective role. Functional insights highlight #immune and #apoptosis-related pathways.
A Mendelian randomization study suggests a statistically significant inverse causal link between FSH and AD, pointing to a protective role. Functional insights highlight #immune and #apoptosis-related pathways.
Potential Causal Association Between Follicle‐Stimulating Hormone and Alzheimer's Disease: Genetic Loci Study and Mendelian Randomization Study
Background Alzheimer's disease (AD) predominantly affects older women, with research suggesting elevated follicle-stimulating hormone (FSH) levels in postmenopausal women correlate with AD risk and ...
onlinelibrary.wiley.com
July 22, 2025 at 11:38 AM
An Early View: Can follicle-stimulating hormone (FSH) influence #Alzheimer’s risk?
A Mendelian randomization study suggests a statistically significant inverse causal link between FSH and AD, pointing to a protective role. Functional insights highlight #immune and #apoptosis-related pathways.
A Mendelian randomization study suggests a statistically significant inverse causal link between FSH and AD, pointing to a protective role. Functional insights highlight #immune and #apoptosis-related pathways.
An Early View: An essay written by Prof @stevesturdy.bsky.social examines 25 years of #genomic medicine in the UK, tracing how promissory narratives have shaped policy, investment, and expectations. It questions what’s been delivered, at what cost, and who ultimately benefits.
The Fortunes of Genomic Medicine: A Quarter Century of Promise
Background The culmination of the Human Genome Project in the early 2000s came wreathed in promises of a revolution in medicine and healthcare. The ensuing quarter century has seen remarkable growth...
onlinelibrary.wiley.com
July 21, 2025 at 9:26 AM
An Early View: An essay written by Prof @stevesturdy.bsky.social examines 25 years of #genomic medicine in the UK, tracing how promissory narratives have shaped policy, investment, and expectations. It questions what’s been delivered, at what cost, and who ultimately benefits.
An Early View: Part of the Centenary Special Issue, this review traces the evolution of DNA variant interpretation, from expert judgement to ACMG/AMP guidelines, while addressing the persistent challenge of VUS. The authors place emphasis on equitable genomic practice via HUGO-led education efforts.
From Expert Judgment to Structured Guidelines: A Brief History and Bright Future of DNA Variant Interpretation
Background The classification of sequence variants is at the core of human genetic diagnostics and is the basis for clinical guidance - incorrectly classified variants may cause great harm to patien...
onlinelibrary.wiley.com
July 17, 2025 at 11:17 AM
An Early View: Part of the Centenary Special Issue, this review traces the evolution of DNA variant interpretation, from expert judgement to ACMG/AMP guidelines, while addressing the persistent challenge of VUS. The authors place emphasis on equitable genomic practice via HUGO-led education efforts.
An Early View: Dr @nancybird1.bsky.social , Prof @turiking.bsky.social, & Prof Hellenthal examine the methodological advances and interpretive limits of genetic ancestry inference. The authors emphasize the need for a stronger focus on conveying uncertainty to mitigate risks of over-interpretation.
Power and Limitations of Inferring Genetic Ancestry
Background The recent emergence of technologies that capture and analyse genetic variation patterns obtained from a person's DNA sample has led to numerous academic and commercial endeavours to infe...
onlinelibrary.wiley.com
July 16, 2025 at 11:35 AM
An Early View: Dr @nancybird1.bsky.social , Prof @turiking.bsky.social, & Prof Hellenthal examine the methodological advances and interpretive limits of genetic ancestry inference. The authors emphasize the need for a stronger focus on conveying uncertainty to mitigate risks of over-interpretation.
An Early View: How far have we come since the Human #Genome Project?
This review reflects on 20 years of progress in rare disease diagnosis and care, highlighting insights from @uniquecharity.bsky.social, a global community of 30,000+ families affected by rare chromosome and gene disorders.
This review reflects on 20 years of progress in rare disease diagnosis and care, highlighting insights from @uniquecharity.bsky.social, a global community of 30,000+ families affected by rare chromosome and gene disorders.
The Promise and Challenges of Genomics for Patients and Families Affected by Rare Conditions
Availability and implementation of genetic testing on a national and global level have advanced exponentially over the last few decades. While having a diagnosis of a rare genetic condition can have ...
onlinelibrary.wiley.com
July 10, 2025 at 8:58 AM
An Early View: How far have we come since the Human #Genome Project?
This review reflects on 20 years of progress in rare disease diagnosis and care, highlighting insights from @uniquecharity.bsky.social, a global community of 30,000+ families affected by rare chromosome and gene disorders.
This review reflects on 20 years of progress in rare disease diagnosis and care, highlighting insights from @uniquecharity.bsky.social, a global community of 30,000+ families affected by rare chromosome and gene disorders.
An Early View: A bidirectional MR study investigates the causal link between idiopathic pulmonary fibrosis (IPF) and CVD.
Findings suggest an inverse association between large artery atherosclerosis #stroke and IPF, with no clear causal ties to other CVDs.
🔗 onlinelibrary.wiley.com/doi/10.1111/...
Findings suggest an inverse association between large artery atherosclerosis #stroke and IPF, with no clear causal ties to other CVDs.
🔗 onlinelibrary.wiley.com/doi/10.1111/...
July 9, 2025 at 12:10 PM
An Early View: A bidirectional MR study investigates the causal link between idiopathic pulmonary fibrosis (IPF) and CVD.
Findings suggest an inverse association between large artery atherosclerosis #stroke and IPF, with no clear causal ties to other CVDs.
🔗 onlinelibrary.wiley.com/doi/10.1111/...
Findings suggest an inverse association between large artery atherosclerosis #stroke and IPF, with no clear causal ties to other CVDs.
🔗 onlinelibrary.wiley.com/doi/10.1111/...