Fingerprint Fingerprint is based on mining the text of the persons scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 7 Similar Profiles
Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences
Genome Medicine & Life Sciences
Single Nucleotide Polymorphism Medicine & Life Sciences
Pituitary Gland Medicine & Life Sciences
DNA Sequence Analysis Medicine & Life Sciences
Exome Medicine & Life Sciences
Transcription Factors Medicine & Life Sciences

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Grants 1997 2022

Research Output 1980 2015

  • 6550 Citations
  • 29 h-Index
  • 45 Article
  • 2 Review article
  • 1 Comment/debate
  • 1 Letter
1547 Citations

A global reference for human genetic variation

Auton, A. , Abecasis, G. R. , Altshuler, D. M. , Durbin, R. M. , Bentley, D. R. , Chakravarti, A. , Clark, A. G. , Donnelly, P. , Eichler, E. E. , Flicek, P. , Gabriel, S. B. , Gibbs, R. A. , Green, E. D. , Hurles, M. E. , Knoppers, B. M. , Korbel, J. O. , Lander, E. S. , Lee, C. , Lehrach, H. , Mardis, E. R. & 30 others Marth, G. T., McVean, G. A., Nickerson, D. A., Schmidt, J. P., Sherry, S. T., Wang, J., Wilson, R. K., Boerwinkle, E., Doddapaneni, H., Han, Y., Korchina, V., Kovar, C., Lee, S., Muzny, D., Reid, J. G., Zhu, Y., Chang, Y., Feng, Q., Fang, X., Guo, X., Jian, M., Jiang, H., Jin, X., Lan, T., Li, G., Li, J., Li, Y., Liu, S., Liu, X. & Lu, Y. Sep 30 2015 In : Nature. 526, 7571, p. 68-74 7 p.

Research output: Contribution to journalReview article

Medical Genetics
Single Nucleotide Polymorphism
High-Throughput Nucleotide Sequencing

Evaluation of commercially available RNA amplification kits for RNA sequencing using very low input amounts of total RNA

Shanker, S., Paulson, A., Edenberg, H. J., Peak, A., Perera, A., Alekseyev, Y. O., Beckloff, N., Bivens, N. J., Donnelly, R., Gillaspy, A. F., Grove, D., Gu, W., Jafari, N., Kerley-Hamilton, J. S., Lyons, R. H., Tepper, C. & Nicolet, C. M. Jan 1 2015 In : Journal of Biomolecular Techniques. 26, 1, p. 4-18 15 p.

Research output: Contribution to journalArticle

RNA Sequence Analysis
Gene Expression Profiling
Complementary DNA
10 Citations

Evaluation of portability and cost of a fluorescent PCR ribotyping protocol for Clostridium difficile epidemiology

Martinson, J. N. V., Broadaway, S., Lohman, E., Johnson, C., Alam, M. J., Khaleduzzaman, M., Garey, K. W., Schlackman, J., Young, V. B., Santhosh, K., Raod, K., Lyons, R. H. & Walk, S. T. Jan 1 2015 In : Journal of Clinical Microbiology. 53, 4, p. 1192-1238 47 p.

Research output: Contribution to journalArticle

Clostridium difficile
Costs and Cost Analysis
Polymerase Chain Reaction
48 Citations

Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers

Sidore, C. , Busonero, F. , Maschio, A. , Porcu, E. , Naitza, S. , Zoledziewska, M. , Mulas, A. , Pistis, G. , Steri, M. , Danjou, F. , Kwong, A. , Del Vecchyo, V. D. O. , Chiang, C. W. K. , Bragg-Gresham, J. , Pitzalis, M. , Nagaraja, R. , Tarrier, B. , Brennan, C. , Uzzau, S. , Fuchsberger, C. & 20 others Atzeni, R., Reinier, F., Berutti, R., Huang, J., Timpson, N. J., Toniolo, D., Gasparini, P., Malerba, G., Dedoussis, G., Zeggini, E., Soranzo, N., Jones, C., Lyons, R., Angius, A., Kang, H. M., Novembre, J., Sanna, S., Schlessinger, D., Cucca, F. & Abecasis, G. R. Nov 1 2015 In : Nature genetics. 47, 11, p. 1272-1281 10 p.

Research output: Contribution to journalArticle

24 Citations

Height-reducing variants and selection for short stature in Sardinia

Zoledziewska, M. , Sidore, C. , Chiang, C. W. K. , Sanna, S. , Mulas, A. , Steri, M. , Busonero, F. , Marcus, J. H. , Marongiu, M. , Maschio, A. , Del Vecchyo, D. O. , Floris, M. , Meloni, A. , Delitala, A. , Concas, M. P. , Murgia, F. , Biino, G. , Vaccargiu, S. , Nagaraja, R. , Lohmueller, K. E. & 13 others Timpson, N. J., Soranzo, N., Tachmazidou, I., Dedoussis, G., Zeggini, E., Uzzau, S., Jones, C., Lyons, R., Angius, A., Abecasis, G. R., Novembre, J., Schlessinger, D. & Cucca, F. Nov 1 2015 In : Nature genetics. 47, 11, p. 1352-1356 5 p.

Research output: Contribution to journalArticle

Laron Syndrome
Genetic Drift
Terminator Codon