Population & Evolutionary Genetics

Issue 430

Environmental phylogenetics supports a steady diversification of crown eukaryotes starting from the mid-Proterozoic

Issue 428

Genome-wide association study of untargeted plasma metabolomic profiles identifies host genetic regulation in people with HIV

Issue 427

The gut microbiome as an effector of metabolic disease gene variants

Issue 423

Regulatory network topology and the genetic architecture of gene expression

Issue 422

Germline sequence variation within the ribosomal DNA is associated with human complex traits

Issue 420

Genetic diversity and regulatory features of human-specific NOTCH2NL duplications

Issue 418

Translating genome-wide association studies at multiple scales: Drug target prioritization, cellular architectures, and organ imaging

Issue 416

Evolutionary innovation through fusion of sequences from across the tree of life

Issue 410

Nucleotide diversity is a poor predictor of short-term adaptive potential

Issue 405

On the origin of PRDM9-guided recombination hotspots

Issue 402

Individuals who deviate from polygenic expectation are enriched for damaging variants in genes linked to rare disease

Issue 400

Complete chromosome 21 centromere sequencing of families with Down syndrome

Issue 399

Genome-wide analysis implicates inner ear development in Ménière disease

Issue 392

Genome-wide association study of cocaine self-administration behavior in Heterogeneous Stock rats

Issue 384

A 3’UTR-derived small RNA modulates the life cycle of the cholera toxin–encoding filamentous phage, CTXϕ

Issue 383

Multi-cohort proteogenomic analyses reveal genetic effects across the proteome and diseasome

Issue 382

Animals have expanded the evolutionary legacy of unicellular ancestors in blood cells

Issue 379

Long-read genome sequencing improves detection and functional interpretation of structural and repeat variants in autism

Issue 371

Single-nucleus epigenomic dysregulation unmasks genetic risk-associated neurodegenerative glia states

Issue 360

An inverse correlation between structural linguistic and human genetic diversity

Issue 356

Meta-analysis across six global biobanks identifies recessive coding associations with complex traits and diseases

Issue 353

Masculinization of populations reverses sex differences in fertility

Issue 351

The persistence and loss of hard selective sweeps amid admixture in ancient Eurasians

Issue 346

How do RNA molecules distinguish self from non-self?

Issue 345

Genome-wide investigation of prosody perception: Shared genetic influences between speech rhythm, musical rhythm, and reading traits

Issue 343

Distinct evolutionary patterns of endemic and emerging parvoviruses and the origin of a new pandemic virus

Issue 341

Estimating returns to education using the genetic lottery

Issue 339

Accessible, realistic genome simulation with selection using stdpopsim

Issue 337

Neurodevelopmental copy-number variants increase risk of internalizing and cardiometabolic multimorbidity: Findings from the UK Biobank

Issue 335

A high-coverage Neandertal genome from the Altai Mountains reveals population structure among Neandertals

Issue 334

Comparative genomics reveals LINE-1 recombination with diverse RNAs

Issue 328

Variant selection to maximize variance explained in cis-Mendelian randomization

Issue 325

Focus on single-gene effects limits discovery and interpretation of complex-trait-associated variants

Issue 323

Meat Consumption and Cognitive Health by APOE Genotype

Issue 320

Sex-stratified genetic regulators of cytokine production in the Dutch and Tanzanian populations

Issue 319

Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53

Issue 318

Biallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem Manifestations

Issue 316

Inclusion bias affects common variant discovery and replication in a health-system linked biobank

Issue 315

Capturing dynamic phage–pathogen coevolution by clinical surveillance

Issue 313

Incorporating polygenic risk scores and social determinants of health across populations: Considerations and best practices in research

Issue 309

A reference panel for linkage disequilibrium and genotype imputation using whole-genome sequencing data from 2,680 participants across India

Issue 307

A membrane-bound nuclease directly cleaves phage DNA during genome injection

Issue 304

Signatures of sex ratio distortion in humans

Issue 303

The untapped potential of short-read sequencing in biodiversity research

Issue 301

Leveraging large-scale biobanks for therapeutic target discovery

Issue 295

Cystic fibrosis risk variants confer protection against inflammatory bowel disease

Issue 292

A new form of diabetes caused by INS mutations defined by zygosity, stem cell and population data

Issue 291

Dated gene duplications elucidate the evolutionary assembly of eukaryotes

Issue 290

SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions

Issue 284

Integrative functional genomics analysis identifies pleiotropic genes for vascular diseases

Issue 282

A gene-specific variance-control approach corrects polygenicity-driven inflation observed in transcriptome-wide association studies

Issue 280

Genetic regulation of fatty acid content in adipose tissue

Issue 273

Horizontal transfer of nuclear DNA in transmissible cancer

Issue 272

The activity and expression of adenylosuccinate lyase were reduced during modern human evolution, affecting brain and behavior

Issue 271

Genetic associations with education have increased and are patterned by socioeconomic context: Evidence from 3 studies born 1946–1970

Issue 265

Deep evolutionary conservation of a sex-determining locus without sequence homology

Issue 260

Transcription start sites experience a high influx of heritable variants fueled by early development

Issue 252

Genetic evolution of keratinocytes to cutaneous squamous cell carcinoma

Issue 247

Genome graphs reveal the importance of structural variation in Mycobacterium tuberculosis evolution and drug resistance

Issue 243

Genome-wide gene-environment interaction study uncovers 162 vitamin D status variants using a precise ambient UVB measure

Issue 241

Insights into natural neocentromere evolution from a cattle T2T X chromosome

Issue 231

Transcription start sites experience a high influx of heritable variants fueled by early development

Issue 228

Characterization of two non-competing antibodies to influenza H3N2 hemagglutinin stem reveals its evolving antigenicity

Issue 218

Multi-ancestry investigation of the genomics of erectile dysfunction

Issue 213

BRAIN-MAGNET: A functional genomics atlas for interpretation of non-coding variants

Issue 211

Genetic elements promote retention of extrachromosomal DNA in cancer cells

Issue 205

Ancient RNA expression profiles from the extinct woolly mammoth

Issue 203

Divergent Evolutionary Dynamics of Benign and Malignant Tumors

Issue 196

Impact of disease-associated chromatin accessibility QTLs across immune cell types and contexts

Issue 180

Issue 176

Issue 165

Protist genomics: key to understanding eukaryotic evolution

Issue 154

Multiple-testing corrections in selection scans using identity-by-descent segments

Issue 153

Skeletal muscle eQTL meta-analysis implicates genes in the genetic architecture of muscular and cardiometabolic traits

Issue 150

Patrilineal segmentary systems provide a peaceful explanation for the post‑Neolithic Y‑chromosome bottleneck

Issue 149

The study of human Y chromosome variation through ancient DNA

Issue 146

Automated and Decentralized Genomic Profiling of Plasma Cell-Free DNA for Identification of Targetable and Resistance Alterations in Advanced Solid Tumors

Issue 144

Revised time estimation of the ancestral human chromosome 2 fusion

Issue 143

MODELLINGOFGENETIC'OUTLIERS'

Issue 139

MosCoverY: A method to estimate mosaic loss of Y chromosome from sequencing coverage data

Issue 135

Global impact of micronutrients in modern human evolution

Issue 134

Single-cell analysis of Barrett’s esophagus and carcinoma reveals cell types conferring risk via genetic predisposition

Issue 133

Culture-independent meta-pangenomics enabled by long-read metagenomics reveals associations with pediatric undernutrition

Issue 131

A cryptic plasmid is among the most numerous genetic elements in the human gut

Issue 130

Combining evidence from human genetic and functional screens to identify pathways altering obesity and fat distribution

Issue 129

Structural variation, selection, and diversification of the NPIP gene family from the human pangenome

Issue 128

LINE-1 retrotransposons mediate cis-acting transcriptional control in human pluripotent stem cells and regulate early brain development

Issue 116

Cell type–specific purifying selection of synonymous mitochondrial DNA variation

Issue 112

Local genetic sex differences in quantitative traits

Issue 111

A multimodal dataset for precision oncology in head and neck cancer

Issue 107

Genome-wide association study of pulpal and apical diseases

Issue 105

Genome-level selection in tumors as a universal marker of resistance to therapy

Issue 104

Issue 091

A genome-wide association study in 10,000 individuals links plasma N-glycome to liver disease and anti-inflammatory proteins

Issue 089

Genome-wide association meta-analysis of human olfactory identification discovers sex-specific and sex-differential genetic variants

Issue 088

Stable heritability of type 1 diabetes in a Swedish Nationwide Cohort Study

Issue 086

Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions

Issue 082

JAK2 inhibition mediates clonal selection of RAS pathway mutations in myeloproliferative neoplasms

Issue 079

Cross-population GWAS and proteomics improve risk prediction and reveal mechanisms in atrial fibrillation

Issue 076

Issue 075

The role of metabolism in shaping enzyme structures over 400 million years

Issue 068

Indels allow antiviral proteins to evolve functional novelty inaccessible by missense mutations

Issue 067

Applying multimodal AI to physiological waveforms improves genetic prediction of cardiovascular traits

Issue 065

Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome

Issue 063

Study design and the sampling of deleterious rare variants in biobank-scale datasets

Issue 060

Improving polygenic prediction from whole-genome sequencing data by leveraging predicted epigenomic features

Issue 057

Medicaid claims from 2008 to 2016 indicate low rates of genetic testing among children with intellectualdisability and autism spectrum disorder

Issue 055

Denisovan mitochondrial DNA from dental calculus of the >146,000-year-old Harbin cranium

Issue 054

Temporal multi-omics analysis of COVID-19 in end-stage kidney disease

Issue 053

Weighing the evidence on costs and benefits of polygenic risk-based approaches in clinical practice: A systematic review of economic evaluations

Issue 052

Human genetic variation reveals FCRL3 is a lymphocyte receptor for Yersinia pestis

Issue 051

Mitochondrial DNA disease discovery through evaluation of genotype and phenotype data: The Solve-RD experience

Issue 039

Toward whole-genome inference of polygenic scores with fast and memory-efficient algorithms

Issue 036

Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy

Issue 035

Tracing the evolutionary history of the CCR5delta32 deletion via ancient and modern genomes

Issue 031

Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome

Issue 028

scPrediXcan integrates deep learning methods and single-cell data into a cell-type-specific transcriptome-wide association study framework

Issue 024

Role of X chromosome and dosage-compensation mechanisms in complex trait genetics

Issue 016

Advancing equity in human genomics through tissue-specific multi-ancestry molecular data

Issue 015

The genetic changes that shaped Neandertals, Denisovans, and modern humans

Issue 013

Human de novo mutation rates from a four-generation pedigree reference

Issue 012

Structure of human MUTYH and functional profiling of cancer-associated variants reveal an allosteric network between its [4Fe-4S] cluster cofactor and active site required for DNA repair

Issue 009

Bayesian causal graphical model for joint Mendelian randomization analysis of multiple exposures and outcomes

Issue 008

A structural variation reference for medical and population genetics

Issue 007

Using high-resolution variant frequencies to empower clinical genome interpretation

Issue 004

CXCL12 drives natural variation in coronary artery anatomy across diverse populations