Avinash Abhyankar

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.

This study evaluates rapid genome sequencing in infants with congenital heart disease, finding genetic diagnoses in 27% of cases and clinical management changes in 62% of diagnosed infants.

Whole-genome sequencing in thousands of families reveals variants relevant to simplex autism in a brain enhancer of the well-established neurodevelopmental disorder gene EBF3.

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

The paper analyzes de novo mutations in 1,465 genomes to show similar mutation rates across ancestries but reduced rates in the Amish population, with environmental factors possibly influencing mutation rates.

This study investigates BRCA2's role in protecting DNA at interstrand crosslinks and shows its distinct function compared to its role in hydroxyurea-induced fork protection.

MetroNome integrates human genotypic and phenotypic data across diseases for hypothesis generation and analysis.