Author
The Jackson Laboratory for Genomic MedicineORCID 0000-0003-2598-6622Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Adam S. Arterbery, Michael A. Gargano, Anita M Bagley…·Peter N. Robinson
The paper identifies pathogenic variants in 15.8% of CP patients and finds only 16 of 60 genes have significant CP association.
Lauren Rekerle, Daniel Danis, Filip Rehburg…·Peter N. Robinson
The paper introduces GPSEA, a tool using GA4GH Phenopackets to analyze genotype-phenotype correlations in Mendelian disorders, identifying 225 significant associations across 85 cohorts.
Luca Cappelletti, Lauren Rekerle, Tommaso Fontana…·Peter N. Robinson
The paper introduces a degree-aware edge sampling method to reduce performance inflation in biomedical graph representation learning caused by imbalanced edge degree distributions.