Hoffman, Douglas

ClinVar: improving access to variant interpretations and supporting evidence

Landrum, M. J., Lee, J. M., Benson, M., Brown, G. R., Chao, C., Chitipiralla, S., Gu, B., Hart, J., Hoffman, D., Jang, W., et al. (2018) · Nucleic Acids Research

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 4,196

ClinVar: public archive of interpretations of clinically relevant variants

Landrum, M. J., Lee, J. M., Benson, M., Brown, G., Chao, C., Chitipiralla, S., Gu, B., Hart, J., Hoffman, D., Hoover, J., et al. (2016) · Nucleic Acids Research

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 2,758

ClinVar: improvements to accessing data

Landrum, M. J., Chitipiralla, S., Brown, G. R., Chen, C., Gu, B., Hart, J., Hoffman, D., Jang, W., Kaur, K., Liu, C., et al. (2020) · Nucleic Acids Research

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 994

Phenotype-Genotype Integrator (PheGenI): synthesizing genome-wide association study (GWAS) data with existing genomic resources

Ramos, E. M., Hoffman, D., Junkins, H. A., Maglott, D., Phan, L., Sherry, S. T., Feolo, M., & Hindorff, L. A. (2014) · European Journal of Human Genetics

Genetic Associations and EpidemiologyBioinformatics and Genomic Networks

Cited by 231

ClinVar: updates to support classifications of both germline and somatic variants

Landrum, M. J., Chitipiralla, S., Kaur, K., Brown, G., Chen, C., Hart, J., Hoffman, D., Jang, W., Liu, C., Maddipatla, Z., et al. (2025) · Nucleic Acids Research

Genomics and Rare DiseasesCancer Genomics and Diagnostics

Cited by 182