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....

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....

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/...

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....

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/...

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/...

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....

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...

📢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...

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/...

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.

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....

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....

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/...

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....

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.

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.

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.

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.

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/...

An Early View: Part of the Annals Centenary Special Issue, a newly published review explores the complex genetic network underlying human #pigmentation, detailing melanin synthesis, melanosome biology, and disorders such as #albinism, Waardenburg syndrome, and #melanoma.

An Early View: New #genome-wide analysis with ∼20 million SNPs coverage reveals ancient links among Andamanese, Papuans & Negrito groups, and distinct structure between island & mainland #Southeast #Asia populations. This study refines our view of early human migration.

An Early View: A newly published review by Prof @dbalding.bsky.social and Dr Speed surveys major statistical advances in human genetics. From coalescent theory and #GWAS to evolving approaches in forensic DNA, this timely reflection explores the past, present, and future of the field.

An Early View: Two novel SPTB variants linked to hereditary #spherocytosis with rare complications of have been identified in #pediatric patients. This study enhances understanding of the phenotype and molecular mechanisms associated with SPTB variation.

An Early View: A new study examining the genetic characteristics of X-STR loci in the Yunnan Yi ethnic minority reveals rich #polymorphisms. This enriched genetic data can support forensic identification and genetic research for the Yunnan Yi ethnicity.

The Annals is proud to release a new Special Issue featuring ten articles on genetic and genomic variation in health and disease across African populations. We hope it informs and inspires further research into the genetic landscape of African populations.

An Early View: De Klerk et al. evaluated a pilot clinical decision-making framework, integrating familial risk factors, lifestyle considerations, and pharmacogenomics in South Africa. This study demonstrates how #genomics can be incorporated into clinical practice to serve African populations.

An Early View: A bidirectional Mendelian randomization study using #GWAS data from 8,000 individuals links inflammatory cytokines to urethral stricture. #Inflammatory cytokines may represent a potential therapeutic target for urethral fibrosis treatment onlinelibrary.wiley.com/doi/10.1111/...

An Early View: New study uses clinical WGS to investigate inherited retinal disorders in the DRC. Causal variants found in 7 families, and 2 novel mutations—underscoring the power of genomics in African populations. onlinelibrary.wiley.com/doi/full/10....

An Early View: Can #AI support #dysmorphology in low-resource settings? A newly published study evaluates D-Score, a facial analysis tool, in children with developmental disorders—showing strong diagnostic potential in DR Congo & Belgium. onlinelibrary.wiley.com/doi/10.1111/...

An Early View: In a newly published review, Prof. William Newman, an expert in translational genomic medicine, explores embedding #pharmacogenomics in routine care at scale, moving beyond the current reactive model of single gene testing. onlinelibrary.wiley.com/doi/full/10....

In a recently published review, Prof. Dallas Swallow - an invited expert in lactase genetics - explored the molecular basis of lactase persistence, linking genetics and #epigenetics in the context of human evolution. 🔗 Read: onlinelibrary.wiley.com/doi/10.1111/...

New invited review from leading expert Prof. Andrew Morris This review explores key methods, protocols & challenges in multiancestry GWAS meta-analysis— boosting discovery and fine-mapping across ancestries. 🔗 Read: onlinelibrary.wiley.com/doi/full/10....

We’re proud to highlight an invited early-view article from Prof. Volker Lauschke. This forward-looking review explores the opportunities and challenges of population #pharmacogenomics, with a focus on maximizing the impact of precision medicine. 🔗 Read: onlinelibrary.wiley.com/doi/full/10....

New early view article from invited world renowned expert Prof. Steve Humphries! In this review, he explores the genetic determinants of the familial #hypercholesterolaemia (FH) phenotype. A must-read for anyone in cardiovascular genetics. 🔗Read: onlinelibrary.wiley.com/doi/10.1111/...

An Early View: #Epigenetic analysis of non–small cell lung cancer samples examined promoter methylation in EGFR and ALK, revealing a significant link between EGFR methylation and advanced disease stage, supporting its potential as a molecular #biomarker. onlinelibrary.wiley.com/doi/abs/10.1...

An Early View: A study integrating #transcriptomics and Mendelian randomization has identified aging-related genes IRF1, ME2, and ERBB2 as linked to #ulcerative #colitis, revealing diagnostic potential and association with immune cell infiltration. onlinelibrary.wiley.com/doi/10.1111/...

An Early View: Mendelian randomization study identified potential #genetic link between systemic lupus erythematosus (SLE) and ischemic #stroke, underscoring the importance of risk surveillance in #SLE populations. onlinelibrary.wiley.com/doi/10.1111/...

An Early View: A review elucidating the #genetic architecture of familial #hypercholesterolaemia (FH) phenotype and the future of identifying novel genetic variants that cause FH. onlinelibrary.wiley.com/doi/10.1111/...

An Early View: A review highlighting the critical role of population #pharmacogenomics in refining pharmacological treatment strategies and maximizing the benefits of precision medicine across diverse populations. onlinelibrary.wiley.com/doi/full/10....

An Early View: A novel CTSA variant identified in Thai-Lahu siblings with late-infantile #galactosialidosis (GS) reveals the first reported association between GS and T-cell defects. onlinelibrary.wiley.com/doi/10.1111/...

An Early View: First report of LOXHD1 variants associated with non-syndromic #PreLingual #HearingLoss in South Indian families. onlinelibrary.wiley.com/doi/full/10....

An Early View: Secondary Findings (SF) with different ACMG versions, and potential new recommendations for SF reporting. onlinelibrary.wiley.com/doi/full/10....

We’re live on Bluesky! Follow 𝐀𝐧𝐧𝐚𝐥𝐬 𝐨𝐟 𝐇𝐮𝐦𝐚𝐧 𝐆𝐞𝐧𝐞𝐭𝐢𝐜𝐬 for updates on international research into human genetic and genomic variation. Latest issue: Volume 89, Issue 2-3 📖 Read it here: onlinelibrary.wiley.com/toc/14691809... 🌐 Journal site: onlinelibrary.wiley.com/journal/1469...