An Early View: MR and colocalization analyses assessed whether genetically predicted #hypertension influences breast #cancer risk in women of African ancestry. No robust causal genetic relationship or shared loci were identified. 🔗 Read the full article: onlinelibrary.wiley.com/doi/full/10....

An Early View: #Genome-wide SNP analysis of Southeast Asian populations reveals clear genetic differentiation between indigenous groups and Malays, despite shared geography. 🔗 Read the full article: doi.org/10.1111/ahg....

Register now for Human Genome Meeting 2026, which will be held at the historic Zappeion Megaron, Athens, from April 21 to 24, 2026. Don't miss this final opportunity to secure your spot at our special discounted rate! Register Now: www.hugo-hgm2026.org #HGM2026 #TheGoldenHelixFoundation

#RareDiseaseDay recently passed, but at Annals of Human Genetics, we’re proud of the research published. The work of our authors helps to shorten the diagnostic odyssey and advance new treatments. Explore a recent review that reflects on how genomics has transformed rare disease diagnosis and care.

#HGM2026 in Athens will focus on latest developments in human genomics. #TheGoldenHelixFoundation

This April join #HGM2026 in Athens to hear about breakthroughs in human genomics! #TheGoldenHelixFoundation

#HGM2026 welcomes Prof. Isidore Rigoutsos (Thomas Jefferson University) as an invited speaker. He will present on computational genomics, regulatory networks, and systems-level genome analysis. Visit www.hugo-hgm2026.org! #TheGoldenHelixFoundation

#HGM2026 welcomes Prof. Aime Lumaka (University of Kinshasa) as an invited speaker. He will discuss genomics research in African populations and its implications for global health and medicine. Visit www.hugo-hgm2026.org! #TheGoldenHelixFoundation

An Early View: #Genetic analysis of Sherpa highlanders shows adaptive variants in EPAS1 and EGLN1 linked to reduced gene expression and a blunted EPO response under chronic hypoxia. This offers insight into human high-altitude adaptation. 🔗 Read the full article: doi.org/10.1111/ahg....

Attend #HGM2026 in April in Athens to hear from leading voices in human genomics! #TheGoldenHelixFoundation

Less than 80 days to the Human Genome Meeting! #HGM2026 #TheGoldenHelixFoundation

An Early View: Mitonuclear discordance has been proposed to impair #mitochondrial function in admixed populations. In 2,301 Māori and Pacific peoples in Aotearoa New Zealand, higher discordance was associated with lower risk of #gout and #T2DM, particularly in the prevalent B4a1a mtDNA haplogroup.

An Early View: Single-cell transcriptomics in #hepatocellular #carcinoma identifies a rare cancer stem-like cell population and Cancer Stem-like Cell Risk Score (CARS). Higher CARS predicted poorer survival, increased drug resistance and drug sensitivity. 🔗: onlinelibrary.wiley.com/doi/10.1111/...

An Early View: #Exome sequencing of three rare neurological disorders in three unrelated Pakistani families revealed novel pathogenic variants in ADGRG1, KAT8, and FAM126A, expanding the allelic and geographic spectrum of neurological disorders. 🔗: onlinelibrary.wiley.com/doi/10.1111/...

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/...

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....