Research area · week to 3 Oct 2026

Genetic Associations and Epidemiology

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Consensus meta-analysis of genome-wide association studies for Alzheimer's disease and related dementias.
Nature Genetics · 1 June 2026 · Meta-Analysis
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Nanoparticle-enriched mass spectrometry proteomics in British South Asians identifies links between genetic variants, plasma protein levels and disease risk.
Nature Genetics · 1 Aug 2026 · Journal Article
Nanoparticle-enriched mass spectrometry reveals over 1,200 novel plasma protein genetic associations in British South Asians, advancing understanding of disease mechanisms.
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Development and validation of polygenic risk profiles of schizophrenia
medRxiv · 1 Oct 2026 · Preprint
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https://jclub.com.au/a/10.1101/2025.04.29.25326656
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Disorder-specific and shared genetic architecture underlying schizophrenia and bipolar disorder
medRxiv · 30 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.07.07.26357436
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Human genetics implicates a BACH2-NRF2 axis in fetal haemoglobin activation.
Nature · 30 Sept 2026 · Journal Article
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https://jclub.com.au/a/42816612
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Decomposing population differences in type 2 diabetes through a high-resolution GWAS of ~600,000 individuals with East Asian ancestry.
Communications Biology · 30 Sept 2026 · Journal Article
High-resolution GWAS of nearly 600,000 East Asians reveals 196 loci for type 2 diabetes, with 3 new loci and 74% shared causal signals across populations.
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https://jclub.com.au/a/42816531
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Predicted Effector Gene Aggregation, Standards and Unified Schema (PEGASUS): A Community Framework for Effector Gene Reporting
bioRxiv · 30 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.06.16.731894
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Population-scale immune multiome atlas reveals regulatory disease mechanisms.
Nature · 30 Sept 2026 · Journal Article
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https://jclub.com.au/a/42816628
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Interpreting GC content differences across populations at polymorphic sites
bioRxiv · 29 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.05.16.725686
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Clinically Translatable Uncertainty-Aware Machine Learning for Cardiovascular Disease Risk Analysis
medRxiv · 26 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.09.18.26363375
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Quantifying the genetic separability of disease subtypes
medRxiv · 26 Sept 2026 · Preprint
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BSA101: Unlocking Historical Mutant Collections with BSA-Seq
bioRxiv · 25 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.09.24.754120
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A TWAS method calibrated for the uncertainty of predicted expression
bioRxiv · 25 Sept 2026 · Preprint
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https://jclub.com.au/a/10.1101/2022.11.06.515378
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A Comparison of Brain Metabolic Connectivity Methods Topology, Cognition, Age, Structure, and Genetics
bioRxiv · 25 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.09.16.752264
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A single-nuclei multiomics resource across four brain regions prioritises human neural cell types influencing brain-related traits
bioRxiv · 25 Sept 2026 · Preprint
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Learning Environment-Associated Marker Rankings with Attention-Based Graph Neural Networks
bioRxiv · 25 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.09.21.753280
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ECC-MR: an error-correcting-code framework for robust Mendelian randomization and pleiotropy decoding on correlated instruments
medRxiv · 24 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.09.22.26363654
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Balancing phenotyping depth and representativeness in psychiatric genomics.
Nature Genetics · 23 Sept 2026 · Journal Article
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https://jclub.com.au/a/42778723
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Single-nucleus atlas of cell-type specific genetic regulation in the human brain.
Nature Genetics · 23 Sept 2026 · Journal Article
Single-nucleus analysis reveals cell-type-specific genetic regulation of 14,258 genes in the human prefrontal cortex, uncovering novel disease-related targets.
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https://jclub.com.au/a/42778721
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Massively parallel assessment of gene regulatory activity at human cortical-structure-associated variants.
Nature Neuroscience · 23 Sept 2026 · Journal Article
Massively parallel reporter assay reveals 918 regulatory variants linked to human cortical structure, with over half showing allelic effects and some being condition-dependent.
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https://jclub.com.au/a/42778716
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Genetic and multi-omic prioritization implicates the CD33-SIGLEC locus in post-traumatic stress disorder
medRxiv · 23 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.09.23.26363743
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Genetic and Cellular Architecture of Breast Cancer Risk Across Ancestries
medRxiv · 23 Sept 2026 · Preprint
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https://jclub.com.au/a/10.1101/2025.08.20.25334075
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Air pollutant multiomics improves functional annotation of SNPs associated with lung disease
medRxiv · 19 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.06.21.26356065
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A Middle East collaborative for undiagnosed diseases.
Nature Reviews Genetics · 18 Sept 2026 · Journal Article
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https://jclub.com.au/a/42760393
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Population-scale burden analysis of rare damaging coding variants identifies novel risk genes for Alzheimer's disease and related dementias and Parkinson's disease and related disorders
medRxiv · 18 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.03.03.26347540
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In search of past genetics.
Science · 17 Sept 2026 · Comment
Population data reveal the historical origin of a rare genetic variant linked to increased lung cancer risk.
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https://jclub.com.au/a/42752154
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Germline EGFR T790M mutation and lung cancer risk.
Science · 17 Sept 2026 · Journal Article
Germline EGFR T790M mutation significantly increases lung cancer risk, especially in never-smokers, surpassing the risk from smoking in over 3.3 million individuals.
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https://jclub.com.au/a/42752144
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Beyond years of schooling: Genetic associations across educational milestones in two Norwegian cohorts.
PLOS Genetics · 17 Sept 2026 · Twin Study
Genetic associations with educational milestones peak at high-school to bachelor's transition, then decline at postgraduate levels, revealing distinct genetic influences across educational stages.
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https://jclub.com.au/a/42752569
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Investigation of sex- and age-specific effects of genetics risk for depression on peripheral biomarkers
medRxiv · 17 Sept 2026 · Preprint
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https://jclub.com.au/a/10.1101/2022.11.20.22282570
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The Soifua Manuia reference panel with 2,570 Samoan haplotypes improves genotype imputation quality among Samoans.
Communications Biology · 17 Sept 2026 · Journal Article
The Soifua Manuia reference panel with 2,570 Samoan haplotypes doubles the number of well-imputed variants compared to TOPMed-R3 and 1KGP in Samoans.
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https://jclub.com.au/a/42754676
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Non-coding regulatory variants in adolescent idiopathic scoliosis risk and pathogenesis.
Communications Biology · 16 Sept 2026 · Review
Non-coding regulatory variants contribute to adolescent idiopathic scoliosis risk, with dozens of loci and hundreds of variants identified in recent studies.
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https://jclub.com.au/a/42749817
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Distinct genetic architectures of mRNA expression and splicing QTL in the Diversity Outbred mouse population
bioRxiv · 15 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.03.06.710203
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