Katherine E. Bonini

The paper assembles and characterizes 2,110 human centromeres, revealing novel haplotypes, mobile element insertions, and mutation rate variation across chromosomes.

460 haplotypes from 230 genomes, selected to maximize common-variant coverage, capture 99.43% of All of Us common small variants and halve structurally unreliable regions and base errors versus HPRC1.

The paper develops a standardized case-level categorization metric for genomic results across the CSER2 consortium to assess diagnostic yield and identify resolvable factors in inconclusive cases.

The paper analyzes chromosome 22q11.2 haplotypes to show how structural variations in specific regions correlate with microdeletion and inversion risks across populations.

The paper uses long-read sequencing to identify pathogenic variants in autism cases, finding three pathogenic mutations and nine candidate structural variants missed by short-read sequencing.

The paper develops a pipeline for integrated breast cancer risk assessment using polygenic risk scores and other factors in the eMERGE study, showing high concordance between API and UI results.

The paper evaluates the impact of GUIA, a digital genetic counseling tool, on understanding of genetic test results in diverse families, finding improved understanding in the intervention group.

The paper identifies clinically relevant variants in poison exons (PEs) that improve diagnostic yield for neurodevelopmental disorders by uncovering variants previously overlooked in standard analyses.

This study compares the diagnostic yield of genome sequencing and targeted gene panel testing in diverse pediatric patients, finding higher yields with genome sequencing in most groups but not all.

The NYCKidSeq project evaluates the clinical utility and communication of genomic testing in diverse children through a randomized controlled trial.