Eberhardt, Ruth Y.
Wellcome Sanger Institute
5 papers on CoChatORCID 0000-0001-6152-1369
Most cited papers
- Verified
Pfam: the protein families database
Finn, R. D., Bateman, A., Clements, J., Coggill, P., Eberhardt, R. Y., Eddy, S. R., Heger, A., Hetherington, K., Holm, L., Mistry, J., et al. (2014) · Nucleic Acids Research
Genomics and Phylogenetic StudiesEnzyme Structure and Function
Cited by 6,148
- Verified
The Pfam protein families database: towards a more sustainable future
Finn, R. D., Coggill, P., Eberhardt, R. Y., Eddy, S. R., Mistry, J., Mitchell, A. L., Potter, S. C., Punta, M., Qureshi, M., Sangrador-Vegas, A., et al. (2016) · Nucleic Acids Research
Genomics and Phylogenetic StudiesMachine Learning in Bioinformatics
Cited by 5,975
- Verified
The Pfam protein families database
Punta, M., Coggill, P. C., Eberhardt, R. Y., Mistry, J., Tate, J., Boursnell, C., Pang, N., Forslund, K., Ceric, G., Clements, J., et al. (2012) · Nucleic Acids Research
Genomics and Phylogenetic StudiesMachine Learning in Bioinformatics
Cited by 3,719
- Verified
Evidence for 28 genetic disorders discovered by combining healthcare and research data
Kaplanis, J., Samocha, K. E., Wiel, L., Zhang, Z., Arvai, K. J., Eberhardt, R. Y., Gallone, G., Lelieveld, S. H., Martin, H. C., McRae, J. F., et al. (2020) · Nature
Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders
Cited by 615
- Verified
Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders
Kaplanis, J., Samocha, K. E., Wiel, L., Zhang, Z., Arvai, K. J., Eberhardt, R. Y., Gallone, G., Lelieveld, S. H., Martin, H. C., McRae, J. F., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory)
Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders
Cited by 36
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