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.70…
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Editor, Annals of Human Genetics
268 posts
Editor, Annals of Human Genetics
@AHGEditor
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.
University College London Tham gia Mayıs 2019
149 Đang theo dõi119 Người theo dõi
Editor, Annals of Human Genetics đã retweet
Register now for Human Genome Meeting 2026, which will be held at the Zappeion Megaron, Athens, from April 21 to 24, 2026. Don't miss this final opportunity to secure your spot at our special discounted rate.
Visit hugo-hgm2026.org!
#HGM2026 #TheGoldenHelixFoundation
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#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.
Awareness and research change lives!
🔗: onlinelibrary.wiley.com/journal/146918…
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#HGM2026 in Athens will focus on latest developments in human genomics.
#TheGoldenHelixFoundation
Human Genome Org@humangenomeorg
We are honored to welcome Prof. Karen Miga (UC Santa Cruz) as an invited speaker at #HGM2026. She will discuss recent breakthroughs in human genome assembly and centromere biology. Visit hugo-hgm2026.org! #TheGoldenHelixFoundation
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This April join #HGM2026 in Athens to hear about breakthroughs in human genomics!
#TheGoldenHelixFoundation
Human Genome Org@humangenomeorg
We are pleased to include Prof. Alessio Squassina (University of Cagliari) as an invited speaker at #HGM2026. His talk will address pharmacogenomics and precision psychiatry. Visit hugo-hgm2026.org! #TheGoldenHelixFoundation
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Editor, Annals of Human Genetics đã retweet
#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 hugo-hgm2026.org!
#TheGoldenHelixFoundation
English
Editor, Annals of Human Genetics đã retweet
#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 hugo-hgm2026.org!
#TheGoldenHelixFoundation
English
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.
🔗: doi.org/10.1111/ahg.70…
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Attend #HGM2026 in April in Athens to hear from leading voices in human genomics!
#TheGoldenHelixFoundation
Human Genome Org@humangenomeorg
We are delighted to announce Prof. Bassam R. Ali (United Arab Emirates University) as an invited speaker at #HGM2026. His talk will highlight advances in human genetic disorders and population genomics. Visit hugo-hgm2026.org! #TheGoldenHelixFoundation
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Less than 80 days to the Human Genome Meeting!
#HGM2026 #TheGoldenHelixFoundation
Human Genome Org@humangenomeorg
We are delighted to feature Prof. Gabriela Repetto (Universidad del Desarrollo) as an invited speaker at #HGM2026. She will share insights on genomics-driven rare disease research and precision oncology strategies. Visit hugo-hgm2026.org! #TheGoldenHelixFoundation
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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.
onlinelibrary.wiley.com/doi/full/10.11…
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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, drug resistance and drug sensitivity.
🔗: doi.org/10.1111/ahg.70…
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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/ah…
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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/ah…
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An Early View: Whole-exome sequencing of 44 men with #asthenoteratozoospermia identified CFAP74 variants as potential causes of male #infertility.
Novel CFAP74 mutations were linked to flagellar defects and disrupted sperm morphology.
🔗: doi.org/10.1111/ahg.70…
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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, and novel variants found in LDLRAP1 and APOB.
🔗: doi.org/10.1111/ahg.70…
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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/ah…
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An Early View: A Mendelian randomization + bioinformatics study reveals 20 lipids with a potential causal relationship with #Alzheimer's disease, #Parkinson's disease & #epilepsy.
Findings suggest lipids may serve as biomarkers & therapeutic targets.
🔗: doi.org/10.1111/ahg.70…
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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/ah…
🔍 Drosophila amyloid toxicity model for AD: onlinelibrary.wiley.com/doi/10.1111/ah…
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An Early View: A study reports a novel STAG1 splice-site variant linked to intellectual disability.
Whole exome sequencing and functional assays revealed aberrant splicing, broadening the mutational and phenotypic spectrum of STAG1-related disorders.
🔗: onlinelibrary.wiley.com/doi/10.1111/ah…
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