Alison R. Barton

The paper identifies convergent natural selection in East and West Eurasia for immune and cardiometabolic traits, but finds distinct patterns for light skin color.

The paper uses ancient DNA data from the eastern Colombian Andes to show that subsistence changes involving maize occurred without population replacement, followed by a major genetic turnover linked to the Herrera culture.

This paper refutes claims of strong natural selection during the Black Death by showing statistical and technical flaws in the original analysis.

This paper detects widespread directional selection in ancient DNA data, identifying 347 genome-wide significant loci and linking them to traits like body fat, skin color, and cognitive performance.

The paper introduces LDSPEC to estimate correlations between causal disease effects of proximal SNPs, finding significant correlations that vary with distance, allele frequency, LD, and functional annotations, implicating stabilizing selection.

The paper uses somatic mutations to analyze lineage divergence in human cortical regions, finding late divergence of neuronal cell types and regional inhomogeneities in progenitor proliferation.

The paper identifies protein-altering structural variants in UK Biobank data and finds associations with various quantitative traits, including hypertension and type 2 diabetes risk.

DeepMosaic detects mosaic single nucleotide variants without control samples using deep convolutional neural networks, achieving high accuracy and uncovering many variants missed by existing methods.

The paper identifies non-coding VNTRs associated with glaucoma and colorectal cancer risk using UK Biobank data and statistical imputation.

This paper develops a computational method to detect rare CNVs in UK Biobank data, identifies 269 CNV-trait associations, and highlights novel gene-trait relationships.

The paper analyzes recessive Mendelian disease variants in UK Biobank to find mitigated phenotypes in heterozygous carriers, identifying associations with quantitative and disease traits.

The paper evaluates brain somatic mosaicism in the adult human to identify rules governing cellular distribution during embryogenesis.

The paper estimates VNTR lengths from whole-exome sequencing data and identifies associations between VNTRs and human phenotypes, finding strong effects on traits like height and lipoprotein(a).

The paper uses whole-exome imputation in UK Biobank to identify rare coding variant associations and fine-mapping results for 54 traits, finding 1,189 significant associations involving 675 novel variants.

The paper investigates the role of mosaic copy number variants (mCNVs) in autism spectrum disorder (ASD) by analyzing genetic data from ASD probands and unaffected siblings, finding a significant association between large mCNVs and ASD risk.

The paper introduces LiRA, a method to distinguish true mutations from artifacts in single-cell DNA sequencing data by phasing somatic variants with germline variants.

The paper identifies age-related accumulation of somatic mutations in human neurons and links them to neurodegenerative diseases.

PaSD-qc evaluates scWGS library quality using power spectral density to assess amplification uniformity and identify aberrant chromosomes.