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Annals of Human Genetics @ahgeditor.bsky.social · 28/09/2026

An Early View: #Genetic hearing loss, especially in consanguineous populations, remains a heterogeneous disorder with limited therapeutic options. Exome sequencing in three consanguineous Pakistanti families reveals novel homozygous missense variants in MSRB3. 🔗 Read here: doi.org/10.1111/ahg....

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(A) 3D structure of normal MSRB3 protein. Part (B) shows the MSRB3 variant type protein. (C) Superimposition of normal and variant type MSRB3 protein. (D) Normal ESRP1 Protein. (E) ESRP1 variant type protein. (F) Superimposition of normal and variant type ESRP1 proteins. (G) 3D structure of normal TMC1 protein. (H) TMC1 variant protein. (I) Superimposed model of normal and variant regions of TMC1 proteins.

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Annals of Human Genetics @ahgeditor.bsky.social · 17/09/2026

An Early View: This study reanalysed all publicly available mitochondrial DNA and Y-chromosome haplogroups in the American population using simple phylogenetic and phylogeographic methods to understand prehistoric human colonization of the Americas. 🔗 Read here: doi.org/10.1111/ahg....

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Annals of Human Genetics @ahgeditor.bsky.social · 16/09/2026

An Early View: RA, PsA, and gout are clinically distinct forms of #inflammatory #arthritis, yet they share systemic inflammatory features. This study identified concrete gene-level targets for cross-disease mechanistic follow up. 🔗 Read here: onlinelibrary.wiley.com/doi/full/10....

Figure. 1

Genetic Correlation Matrix of inflammatory arthritis phenotypes and biomarkers. The color intensity and circle size represent correlation strength, ranging from −1 to +1.

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Annals of Human Genetics @ahgeditor.bsky.social · 15/09/2026

An Early View: A two-sample Mendelian randomisation study using publicly available GWAS summary statistics evaluates the associations of leukocyte #telomere length and #epigenetic age acceleration with #healthspan. 🔗 Read here: onlinelibrary.wiley.com/doi/full/10....

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Forest plot of MR estimates for genetically proxied LTL and healthspan. The forest plots summarize MR estimates for the associations between LTL and healthspan. Four MR methods were used: IVW, weighted median, weighted mode, and MR Egger regression. Each method is represented by a point estimate, a 95% CI, and the corresponding p-value. CI, confidence interval; IEAA, intrinsic epigenetic age acceleration; IVW, inverse-variance weighted; LTL, leukocyte telomere length; MR, Mendelian randomization; SNP, single-nucleotide polymorphism.

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Annals of Human Genetics @ahgeditor.bsky.social · 07/09/2026

An Early View: This narrative review integrates #clinical, familial, tissue-specific #heteroplasmy and functional evidence across the MT-TI variant spectrum. The authors sought to clarify the implications for variant interpretation and diagnosis. 🔗 Read here: onlinelibrary.wiley.com/doi/full/10....

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Overview of the clinical phenotypic spectrum of MT-TI. MT-TI variants can involve the ophthalmological system (including chronic progressive external ophthalmoplegia, ptosis, and diplopia), the auditory system (sensorineural hearing loss), skeletal muscle (proximal muscle weakness, myalgia, muscle atrophy, rhabdomyolysis, and ragged-red fibres), the central nervous system (including MERRF/MERRF-like and Leigh/Leigh-like syndromes, epilepsy, ataxia, and developmental delay), the cardiovascular system (hypertension, hypertrophic or dilated cardiomyopathy, mitochondrial cardiomyopathy, and cardiac arrhythmias), and the urinary system (Gitelman-like syndrome, chronic renal failure, and glomerulosclerosis)

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Annals of Human Genetics @ahgeditor.bsky.social · 03/09/2026

An Early View: Clinical interpretation of #monogenic #diabetes relies on ClinVar and gnomAd, yet both are skewed toward European ancestry. This study evaluated whether that skew translates into unequal diagnostic yield for non-European patients. 🔗 Read here: onlinelibrary.wiley.com/doi/full/10....

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Annotation gap by ancestry. Percentage gnomAD v4 variants without any ClinVar classification, shown overall and for European-private, non-European private, and shared variants, illustrating a near universal deficit.

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Annals of Human Genetics @ahgeditor.bsky.social · 27/08/2026

An Early View: Analysis of SOD1 #genetic architecture across continental populations shows that the SOD1 coding region has consistent 2 to 3-fold reduction in #nucleotide diversity and minimal inter-population #differentiation. 🔗 Read the full article here: onlinelibrary.wiley.com/doi/full/10....

Figure 1. Reduced nucleotide diversity and allele frequency uniformity across the SOD1 locus in global populations. (a) Sliding-window analysis of nucleotide diversity (π) showing decreased variability within SOD1 compared to flanking regions. (b) Smoothed alternate-allele frequencies across five macro-populations reveal parallel patterns and low differentiation.

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Annals of Human Genetics @ahgeditor.bsky.social · 07/08/2026

An Early View: In a letter to the editor, Droma et al. (2026) respond to a review of their article, which examined the relationship between high-altitude #adaptive #genetic #variants and EPAS1/EGLN1 mRNA expression in Sherpa highlanders. 🔗 Read the full response here:

onlinelibrary.wiley.com

Response to Letter on “Downregulation of EPAS1 and EGLN1 mRNA Expression Associated With High‐Altitude Adaptive Genetic Variants in Sherpa Highlanders”

Click on the article title to read more.

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Annals of Human Genetics @ahgeditor.bsky.social · 05/08/2026

An Early View: A recent letter to the editor of The Annals reviews the methodology and hypothesis of the article ‘Downregulation of EPAS1 and EGLN1 mRNA Expression Associated With High-Altitude Adaptive Genetic #Variants in #Sherpa Highlanders’. 🔗 Read the full letter here:

onlinelibrary.wiley.com

Letter on ‘Downregulation of EPAS1 and EGLN1 mRNA Expression Associated With High‐Altitude Adaptive Genetic Variants in Sherpa Highlanders’

Click on the article title to read more.

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Annals of Human Genetics @ahgeditor.bsky.social · 04/08/2026

An Early View: Early #GWAS of #psychiatric disorders were in predominantly in European populations, limiting understanding of genetic architecture across populations. Future studies should integrate admixed populations to improve discovery and clinical translation. 🔗 Read the full article here:

onlinelibrary.wiley.com

Trans‐Ancestry Psychiatric Genomics in Admixed Populations: Advances, Challenges, and Future Directions

Background Early genome-wide association studies (GWAS) of psychiatric disorders were conducted predominantly in European populations, limiting the understanding of genetic architecture across ances...

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Annals of Human Genetics @ahgeditor.bsky.social · 03/08/2026

An Early View: A first of its kind study confirmed the utility of Alu insertion #variants for inferring geographic ancestry in a #Kuwaiti population. 🔗 Read the full article here: doi.org/10.1111/ahg....

Figure 4.

PC plot based on the variation of 5 Alu insertion variants in populations from North Africa, Southern Europe and Middle East (including Kuwaitis). Population samples used for comparisons: Egypt (Salem et al. 2014); Tunisia (El Moncer et al. 2010); Algeria, Morocco, France (Comas et al. 2000); Syria, Germany (Romualdi et al. 2002); Jordan (Bahri et al. 2012); Bahrain; Southern Iran (Bahri et al. 2013); Turkish-Cypriot (Stoneking et al. 1997); Azerbaijan, Georgia, Armenia (Nasidze et al. 2001); and Kuwaiti (present study).

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Annals of Human Genetics @ahgeditor.bsky.social · 15/07/2026

An Early View: Findings from a study assessing HLA variation in #COVID-19 vaccinated #Bangladeshi population indicate HLA-DRB1 alleles may have an association with SARS-CoV-2 seroprevalence. 🔗 Read the full article here: doi.org/10.1111/ahg....

Figure 1: Frequency distribution of the alleles of the HLA-DRB1 gene among the seropositive (yellow) and seronegative (violet) vaccinees. HLA-DRB1*04, HLA-DRB1*07, HLA-DRB1*12, and HLA-DRB1*15 alleles were comparatively higher in frequency among the seropositive group, and HLA-DRB1*01, HLA-DRB1*03, HLA-DRB1*10, HLA-DRB1*11, and HLA-DRB1*14 alleles were comparatively higher in the seronegative group.

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Annals of Human Genetics @ahgeditor.bsky.social · 10/07/2026

An Early View: #Exome sequencing, #RNA studies, and a minigene assay of urine-derived cells identified pathogenic variants in L1CAM associated with a spectrum of neurodevelopmental disorders. This report broadens the molecular spectrum of intronic L1CAM variants. 🔗 Read the full article here:

onlinelibrary.wiley.com

Utility of Urine‐Derived Cells for Characterizing Aberrant Splicing Caused by a Novel Deep Intronic L1CAM Variant

Background Pathogenic variants in L1CAM, located at Xq28, cause a spectrum of neurodevelopmental disorders of varying severity, including congenital hydrocephalus, MASA syndrome, agenesis of the cor...

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Annals of Human Genetics @ahgeditor.bsky.social · 09/07/2026

An Early View: Screening of #genetic variants associated with premature ovarian insufficiency (POI) in a Chinese Miao pedigree identified a novel FIGLA variant (c.385-9G>A). This variant disrupts mRNA splicing, potentially contributing to #POI. 🔗 Read the full article here:

onlinelibrary.wiley.com

FIGLA Novel Variant c.385‐9G>A Affects RNA Splicing in a Minigene Assay

Objective This study aims to screen for genetic variants associated with premature ovarian insufficiency (POI) in a Chinese Miao pedigree. Methods The proband underwent whole exome sequencing (WES)...

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Annals of Human Genetics @ahgeditor.bsky.social · 11/06/2026

An Early View: #Preeclampsia (PE) is a hypertensive pregnancy disorder. In a mixed design cohort of early pregnancy, serum levels and #epigenetic profiles suggest epigenetic modulation of antioxidant and angiogenic pathways in women at risk for PE. 🔗 Read the full article: doi.org/10.1111/ahg....

Figure 1:
Consort diagram. IUGR, intrauterine growth restriction.

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Annals of Human Genetics @ahgeditor.bsky.social · 01/06/2026

An Early View: Mendelian randomization analysis provides genetic evidence linking increased total hip bone marrow adipose tissue (BMAT) to higher risk of #Alzheimer's disease. The results identify BMAT as a potential target for future AD research. 🔗 Read the full article: doi.org/10.1111/ahg....

Figure 1:
Schematic overview of the study.

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Annals of Human Genetics @ahgeditor.bsky.social · 29/05/2026

An Early View: A novel biallelic REL frameshift variant, p.(Tyr9Ilefs*2), expands the mutational spectrum of the REL gene, causing Immunodeficiency-92, an exceptionally rare inborn error of #immunity linked to profound c-Rel deficiency. 🔗 Read the full article: doi.org/10.1111/ahg....

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Annals of Human Genetics @ahgeditor.bsky.social · 01/05/2026

An Early View: Integrative multiomics and MR identify PSMA4 as a causal therapeutic target for #atherosclerosis. Evidence supports its role in plaque biology, with proteasome inhibitors identified as potential repurposing candidates. 🔗 Read the full article: onlinelibrary.wiley.com/doi/10.1111/...

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Annals of Human Genetics @ahgeditor.bsky.social · 16/04/2026

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....

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Annals of Human Genetics @ahgeditor.bsky.social · 26/03/2026

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....

Figure 1:

Coverage and population structure of indigenous/native populations and cosmopolitan Malays. (a) Illustration of the coverage of all fifteen population studied, which includes three indigenous populations from Peninsular Malaysia, five native populations from North Borneo, and cosmopolitan Malays from Singapore. The colors of the circles have assigned to represent the population. The figure map was create using R package “maps” in R software. (b) Principal component analysis of all 15 populations using 271,640 overlapped SNPs. (c) Principal component analysis of only the nine Southeast Asian populations. Each circle represents an individual from a particular population and is assigned a color unique to that population. CEU, Central European; CHB, Han Chinese Beijing; CHS, Southern Han Chinese; GIH, Gujarati India; INS, Southern India Singapore; MAS, Cosmopolitan Malay; NB-DDS; NB-PSG; NB-RPL, North Borneo Rungus; NB-DRG; NB-DSO, North Borneo Sonsogon; PM-GL, Peninsular Malaysia Pos Lebir (Semang Bateq); PM-GM, Peninsular Malaysia Gua Musang (Senoi Termiar); PM-SA, Peninsular Malaysia Sungai Aring (Semang Bateq); YRI, African Yoruban.

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Reposted by Annals of Human Genetics

Human Genome Organisation @humangenomeorg.bsky.social · 09/03/2026

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

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Annals of Human Genetics @ahgeditor.bsky.social · 03/03/2026

#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.

onlinelibrary.wiley.com

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 ...

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Annals of Human Genetics @ahgeditor.bsky.social · 20/02/2026

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

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Annals of Human Genetics @ahgeditor.bsky.social · 20/02/2026

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

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Reposted by Annals of Human Genetics

Human Genome Organisation @humangenomeorg.bsky.social · 26/01/2026

#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

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Reposted by Annals of Human Genetics

Human Genome Organisation @humangenomeorg.bsky.social · 23/01/2026

#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

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Annals of Human Genetics @ahgeditor.bsky.social · 09/02/2026

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....

Figure 7

Genetic and molecular adaptations to hypoxia in native high-altitude populations.

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Annals of Human Genetics @ahgeditor.bsky.social · 05/02/2026

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

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Annals of Human Genetics @ahgeditor.bsky.social · 20/01/2026

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/...

Patients with different CARS levels have different responses to therapies. A total of 373 HCC samples were divided into high- and low-CARS groups based on the median value, and the IC50 values for different drugs were estimated for each HCC patient according to a pipeline from the Genomics of Drug Sensitivity in Cancer (GDSC) database (A–C). (A) For sorafenib, CARShigh patients have significantly higher IC50 values than CARSlow patients. (B) For tamoxifen, CARShigh patients have significantly lower IC50 values than CARSlow patients. (C) For docetaxel, CARShigh patients have significantly lower IC50 values than CARSlow patients. (D–F) The “TIDE” algorithm was applied to assess the T cell exclusion and T cell dysfunction levels in HCCs. (D) Higher CARS is associated with lower TIDE scores. Lower TIDE scores indicate greater sensitivity to ICI therapy. (E) CARShigh patients experience significantly less loss of T-cell function compared to CARSlow patients. (F) CARShigh patients exhibit higher levels of T-cell exclusion grade in tissue than CARSlow patients.

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Annals of Human Genetics @ahgeditor.bsky.social · 19/12/2025

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/...

(a) Pedigree of Family-1 segregating c.1579C > T; p.Pro527Ser novel ADGRG1 variant. (b) Pedigree of Family-2 segregating c.649A > C; p.Met217Leu variant. (c) Pedigree of Family-3 segregating c.722T > G; p.Leu241Ter variant. (d) Genomic location at chr16 and a part of the sequence chromatogram showing the c.1579C > T variant in ADGRG1 gene associated with bilateral frontoparietal polymicrogyria (BFPP); the mother was a heterozygous carrier, whereas the unaffected sibling was homozygous normal and the affected individuals were homozygous mutant for this ADGRG1 variant. (e) Genomic location at chr16 and a part of the sequence chromatogram showing the c.649A > C variant in KAT8 gene associated with LIGOWS syndrome (syndromic intellectual disability); unaffected individuals of the family were heterozygous carriers, and the affected individuals were homozygous mutants for this KAT8 variant. (f) Genomic location at chr7 and a part of sequence chromatogram showing the c.722T > G variant in FAM126A gene associated with hypomyelination and congenital cataract; unaffected individuals of the family were heterozygous carriers, and the affected individual was homozygous mutant for this FAM126A variant.

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Annals of Human Genetics @ahgeditor.bsky.social · 20/11/2025

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/...

Figure 1: A flowchart describing the steps of WGS analysis in the study

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Annals of Human Genetics @ahgeditor.bsky.social · 27/10/2025

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....

Figure 2: Morphology and ultrastructure analysis of spermatozoa in the fertile male and the man harbouring CFAP74 variants. (A) Morphology analysis of the spermatozoa from a fertile man and the proband P24 by modified Papanicolaou staining. (B) SEM analysis of spermatozoa cells from a control individual and the proband P24. The thinner midpiece was marked with a yellow arrow. (C) TEM analysis of spermatozoa ultrastructure. A cross section of sperm from a control participant displayed the typical ‘9 + 2’ microtubule structure with CP, nine pairs of peripheral DMT and an arrangement of ODF. Longitudinal section of the control participant displayed organized MS in flagella. Compared with the control, abnormal sperm ultrastructure could be observed in the proband P24. CP, central pair; DMT, doublet microtubule; MS, mitochondrial sheaths; MT, mitochondria; ODF, outer dense fibre; SEM, scanning electron microscopy; TEM, transmission electron microscopy.

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Annals of Human Genetics @ahgeditor.bsky.social · 20/10/2025

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....

Figure 1: Distribution of LDL cholesterol levels by gene with identified variants (patients P1–P23).

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Annals of Human Genetics @ahgeditor.bsky.social · 02/10/2025

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/...

Figure 1: Identification of the candidate c.118-4dup TMEM256 and c.1123G > A MYH3 variants. (A) The pedigree of the family, an arrowhead indicates the proband. Affected family members and non-penetrant carriers carrying the monoallelic TMEM256+/V and/or MYH3+/V variants are labeled in bold, while the wild-type genotypes (TMEM256+/+ and MYH3+/+) are indicated as WT.

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Annals of Human Genetics @ahgeditor.bsky.social · 01/10/2025

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....

Figure 1: A schematic overview summarizing the study. GWAS stands for genome-wide association study; SNPs refer to single-nucleotide polymorphism; MR denotes Mendelian randomization; IVW signifies inverse-variance-weighted; and MR-PRESSO represents MR pleiotropy residual sum and outlier.

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Annals of Human Genetics @ahgeditor.bsky.social · 21/09/2025

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/...

onlinelibrary.wiley.com

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 ...

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Annals of Human Genetics @ahgeditor.bsky.social · 04/09/2025

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/...

Figure 1:

The Sanger sequencing results of the proband and parents for the variants.

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Annals of Human Genetics @ahgeditor.bsky.social · 03/09/2025

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....

Figure 1: Geographical location of the study area and distribution of urban communities in Buenaventura, Valle del Cauca, Colombia.

The figure shows the position of Buenaventura on the Pacific coast of Colombia, with its 12 urban communities highlighted. Communities 1 to 5 are located in the insular zone, while communities 6 to 12 are part of the continental zone. From Ortega et al. (2015). Licensed under CC BY 4.0: https://creativecommons.org/licenses/by/4.0/. Modified from original. Available at https://academicjournals. org/journal/IJGMB/article-abstract/8E4460450921.

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Reposted by Annals of Human Genetics

UCL Faculty of Life Sciences @ucllifesciences.bsky.social · 18/08/2025

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...

Cover image of The Annals of Human Genetics centenary issue.

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Annals of Human Genetics @ahgeditor.bsky.social · 18/08/2025

📢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...

Cover image of the Annals of Human Genetics Centenary Special Issue

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Annals of Human Genetics @ahgeditor.bsky.social · 05/08/2025

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/...

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Scheme of gene interactions according to the String database: (A) genes associated with no response; (B) genes associated with good response (disconnected nodes were hidden from the network).

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Annals of Human Genetics @ahgeditor.bsky.social · 04/08/2025

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.

onlinelibrary.wiley.com

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.....

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Annals of Human Genetics @ahgeditor.bsky.social · 30/07/2025

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....

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The pedigree illustrates segregation analysis of LOXHD1 variants: c.2879C>A, p.(Ser960Ter), and c.1441C>T, p.(Pro481Ser). The father is heterozygous for variant c.2879C>A, p.(Ser960Ter), and the mother is heterozygous for variation c.1441C>T, p.(Pro481Ser). The affected siblings with hearing loss inherited one variant from each parent, resulting in compound heterozygosity, consistent with an autosomal recessive inheritance pattern.

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Annals of Human Genetics @ahgeditor.bsky.social · 29/07/2025

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....

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Annals of Human Genetics @ahgeditor.bsky.social · 28/07/2025

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....

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