Tristan Nelson

GA4GH: International policies and standards for data sharing across genomic research and healthcare

Heidi L. Rehm, Angela Page, Lindsay Smith et al. · Cell Genomics · 2021 · 273 citations · Full text

Mondo: Unifying diseases for the world, by the world

Nicole Vasilevsky, Nicolas Matentzoglu, Sabrina Toro et al. · 2022 · 96 citations · Full text

Community-driven Ontology, System Medicine, Unifying Diseases +19

ClinGen Allele Registry links information about genetic variants

Piotr Pawliczek, Ronak Y. Patel, Lillian Ashmore et al. · Human Mutation · 2018 · 67 citations · Full text

Genetics, Genetic Epidemiology, Genomics +20

The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification

Alex H. Wagner, Lawrence Babb, Gil Alterovitz et al. · Cell Genomics · 2021 · 55 citations · Full text

Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar

Erin Rooney Riggs, Tristan Nelson, Andrew Merz et al. · Human Mutation · 2018 · 42 citations · Full text