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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ALT Figure 2. Manhattan plots for HLA tests of association in an Amish aging cohort study. (a) Unadjusted and (b) adjusted (age, sex) association test results comparing affected (LOAD+MCI) to unaffected participants. Points represent individual test results: classical HLA alleles (navy), HLA amino acid variants (orange), and SNPs (grey), plotted by their position on chromosome 6 against their corresponding significance level as shown by -log10(P) on the y-axis. In addition to their chromosome position, the genomic positions of HLA genes are depicted below each Manhattan plot. Only the peak variants within each category are labeled in each association test.
ALT Figure 2 Variants associated with aortic disease in the MYLK gene. The figure depicts the Finnish-enriched MYLK c.4079G>A p. (Gly1360Asp) variant (in bold) and pathogenic and likely pathogenic MYLK variants linked to HTAD reported in the ClinVar database (accessed March 9, 2026).
ALT Figure. 2 (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.
ALT Figure. 1 Hg A2 PCoA
ALT 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.
ALT Figure. 2 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.
ALT Figure. 1 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)
ALT Figure. 1 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.
ALT 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.
ALT 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).
ALT 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.
ALT Figure 1: Consort diagram. IUGR, intrauterine growth restriction.
ALT Figure 1: Schematic overview of study.