E-LIB Suche - Ergebnisse für: Robinson, Peter N

1

An evaluation of GPT models for phenotype concept recogniti..:

Groza, Tudor ; Caufield, Harry ; Gration, Dylan...
BMC Medical Informatics and Decision Making. 24 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

2

Learning from conect4children: A Collaborative Approach tow..:

Sen, Anando ; Hedley, Victoria ; Degraeuwe, Eva...
Data. 9 (2024) 4 - p. 55 , 2024

Link: https://doi.org/10.3390/..

3

Toward robust clinical genome interpretation: Developing a ..:

Roberts, Angharad M. ; DiStefano, Marina T. ; Riggs, Erin Rooney...
Genetics in Medicine. 26 (2024) 2 - p. 101029 , 2024

Link: https://doi.org/10.1016/..

4

Node-degree aware edge sampling mitigates inflated classifi..:

Cappelletti, Luca ; Rekerle, Lauren ; Fontana, Tommaso...
Bioinformatics Advances. , 2024

Link: https://doi.org/10.1093/..

5

An open source knowledge graph ecosystem for the life scien..:

Callahan, Tiffany J. ; Tripodi, Ignacio J. ; Stefanski, Adrianne L....
Scientific Data. 11 (2024) 1 - p. , 2024

Link: https://doi.org/10.1038/..

6

Improving prenatal diagnosis through standards and aggregat..:

Duyzend, Michael H. ; Cacheiro, Pilar ; Jacobsen, Julius O. B....
Prenatal Diagnosis. 44 (2024) 4 - p. 454-464 , 2024

Link: https://doi.org/10.1002/..

7

Structured Prompt Interrogation and Recursive Extraction of..:

Caufield, J Harry ; Hegde, Harshad ; Emonet, Vincent...
Bioinformatics. 40 (2024) 3 - p. , 2024

Link: https://doi.org/10.1093/..

8

vcfpp: a C++ API for rapid processing of the variant call f..:

Li, Zilong ; Robinson, Peter N
Bioinformatics. 40 (2024) 2 - p. , 2024

Link: https://doi.org/10.1093/..

9

Predicting nutrition and environmental factors associated w..:

Chan, Lauren E ; Casiraghi, Elena ; Reese, Justin...
International Journal of Medical Informatics. 187 (2024) - p. 105461 , 2024

Link: https://doi.org/10.1016/..

10

Lethal phenotypes in Mendelian disorders:

Cacheiro, Pilar ; Lawson, Samantha ; Van den Veyver, Ignatia B....
Genetics in Medicine. , 2024

Link: https://doi.org/10.1016/..

11

KG-Hub—building and exchanging biological knowledge graphs:

Caufield, J Harry ; Putman, Tim ; Schaper, Kevin...
Bioinformatics. 39 (2023) 7 - p. , 2023

Link: https://doi.org/10.1093/..

12

Diffuse alveolar hemorrhage in children with interstitial l..:

Knoflach, Katrin ; Rapp, Christina Katharina ; Schwerk, Nicolaus...
Pediatric Pulmonology. 58 (2023) 4 - p. 1106-1121 , 2023

Link: https://doi.org/10.1002/..

13

Ontologizing health systems data at scale: making translati..:

Callahan, Tiffany J. ; Stefanski, Adrianne L. ; Wyrwa, Jordan M....
npj Digital Medicine. 6 (2023) 1 - p. , 2023

Link: https://doi.org/10.1038/..

14

The Medical Action Ontology: A tool for annotating and anal..:

Carmody, Leigh C. ; Gargano, Michael A. ; Toro, Sabrina...
Med. 4 (2023) 12 - p. 913-927.e3 , 2023

Link: https://doi.org/10.1016/..

15

Integration of EpiSign, facial phenotyping, and likelihood ..:

Forwood, Caitlin ; Ashton, Katie ; Zhu, Ying...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 193 (2023) 3 - p. , 2023

Link: https://doi.org/10.1002/..