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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.
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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....

submitted 2 days ago • 0 comments

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/...

submitted 4 days ago • 0 comments

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....

submitted 7 days ago • 0 comments

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/...

submitted 8 days ago • 0 comments

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....

submitted 9 days ago • 0 comments

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....

submitted 10 days ago • 0 comments

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/...

submitted 11 days ago • 0 comments

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...

submitted 13 days ago • 0 comments

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/...

submitted 17 days ago • 0 comments

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/...

submitted 18 days ago • 0 comments

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/...

submitted 34 days ago • 0 comments

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....

submitted 36 days ago • 0 comments

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/...

submitted 37 days ago • 0 comments

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

submitted 38 days ago • 0 comments

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

submitted 39 days ago • 0 comments

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...

submitted 39 days ago • 0 comments