Francesca Chiaromonte

The paper analyzes G-quadruplexes across the human pangenome, finding that they show distinct selection patterns and influence gene expression.

This study analyzes substitution patterns and selection at G-quadruplexes in great ape genomes, finding stronger purifying selection on stems than loops, especially in regulatory regions.

The paper analyzes single-stranded DNA (ssDNA) formation in human and non-human ape telomere-to-telomere genomes to identify non-B DNA structures and their functional roles.

The paper analyzes non-B DNA motifs in bird genomes, showing differences in distribution across chromosome types and their potential regulatory roles, while highlighting sequencing challenges.

The paper detects mtDNA mutations in oocytes, blood, and saliva across ages and finds mutations increase in blood and saliva but not in oocytes, with age-related differences in mutation frequency distribution.

The paper analyzes G-quadruplexes in T2T genomes of great apes, finding shared and species-specific G4s, their methylation patterns, and their potential role in gene regulation and adaptation.

The paper characterizes non-B DNA motifs in T2T genomes of apes, showing their enrichment in specific genomic regions and potential roles in genome function.

The paper links methylation profiles at birth to early childhood obesity by analyzing 48 infants and identifying 23 and 10 genes in cord blood and placenta associated with weight outcomes.

This study examines how non-B DNA motifs affect sequencing error rates across three technologies and proposes a method to estimate false-positive SNVs.

The paper introduces SURFDAWave, a method to identify regions of positive selection by analyzing functional data derived from genomic diversity measures, and applies it to human data to detect adaptive introgression and predict selection parameters.

This paper develops a polygenic risk score for childhood obesity using longitudinal weight gain data and shows it predicts obesity risk better than adult GWAS-based scores.

The paper uses long-read sequencing to analyze how non-B DNA structures affect DNA polymerization speed and error rates across the human genome.

The paper links infant weight gain trajectories to oral microbiome composition and shows associations with gut microbiome and diet.