المؤلفون: Birgmeier, Johannes, Haeussler, Maximilian, Deisseroth, Cole A., Steinberg, Ethan H., Jagadeesh, Karthik A., Ratner, Alexander J., Guturu, Harendra, Wenger, Aaron M., Diekhans, Mark E., Stenson, Peter D., Cooper, David N., Ré, Christopher, Beggs, Alan H., Bernstein, Jonathan A., Bejerano, Gill

وصف الملف: application/pdf

العلاقة: https://orca.cardiff.ac.uk/id/eprint/134279/1/COOPER,%20David%20-%20AMELIE%20speeds%20Mendelian%20diagnosis%20by%20matching%20patient%20phenotype.pdfTest; Birgmeier, Johannes, Haeussler, Maximilian, Deisseroth, Cole A., Steinberg, Ethan H., Jagadeesh, Karthik A., Ratner, Alexander J., Guturu, Harendra, Wenger, Aaron M., Diekhans, Mark E., Stenson, Peter D. https://orca.cardiff.ac.uk/view/cardiffauthors/A039285D.htmlTest, Cooper, David N. https://orca.cardiff.ac.uk/view/cardiffauthors/A0547623.htmlTest orcid:0000-0002-8943-8484 orcid:0000-0002-8943-8484, Ré, Christopher, Beggs, Alan H., Bernstein, Jonathan A. and Bejerano, Gill 2020. AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature. Science Translational Medicine 12 (544) , eaau9113. 10.1126/scitranslmed.aau9113 https://doi.org/10.1126/scitranslmed.aau9113Test file https://orca.cardiff.ac.uk/id/eprint/134279/1/COOPER,%20David%20-%20AMELIE%20speeds%20Mendelian%20diagnosis%20by%20matching%20patient%20phenotype.pdfTest

الإتاحة: https://doi.org/10.1126/scitranslmed.aau9113Test
https://orca.cardiff.ac.uk/id/eprint/134279Test/
https://orca.cardiff.ac.uk/id/eprint/134279/1/COOPER,%20David%20-%20AMELIE%20speeds%20Mendelian%20diagnosis%20by%20matching%20patient%20phenotype.pdfTest

المؤلفون: Jagadeesh, Karthik A.¹, Wu, David J.¹, Birgmeier, Johannes A.¹, Boneh, Dan^1,2 dabo@cs.stanford.edu, Bejerano, Gill^1,3,4 bejerano@stanford.edu

المصدر: Science. 8/18/2017, Vol. 357 Issue 6352, p692-695. 4p. 1 Chart.

مصطلحات موضوعية: *GENOMES, *GENE therapy, *GENETICS, *GENOMICS, *GENES