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116 results on '"O’Connor, Brian D."'

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2. A Framework for the Interoperability of Cloud Platforms: Towards FAIR Data in SAFE Environments

3. A user guide for the online exploration and visualization of PCAWG data.

4. Pan-cancer analysis of whole genomes

5. Inverting the model of genomics data sharing with the NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space

6. GA4GH: International policies and standards for data sharing across genomic research and healthcare

7. Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features

8. SeqWare Query Engine: storing and searching sequence data in the cloud

9. A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns

10. Combined burden and functional impact tests for cancer driver discovery using DriverPower

11. Integrative pathway enrichment analysis of multivariate omics data

12. Pathway and network analysis of more than 2500 whole cancer genomes

13. Divergent mutational processes distinguish hypoxic and normoxic tumours

14. Genomic footprints of activated telomere maintenance mechanisms in cancer

15. Inverting the model of genomics data sharing with the NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space

16. GA4GH: International policies and standards for data sharing across genomic research and healthcare

17. Mutations in PYCR1 cause cutis laxa with progeroid features

18. The Dockstore: enhancing a community platform for sharing reproducible and accessible computational protocols

19. Inverting the model of genomics data sharing with the NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space (AnVIL)

20. Butler enables rapid cloud-based analysis of thousands of human genomes

21. Pan-cancer analysis of whole genomes

22. A user guide for the online exploration and visualization of PCAWG data

23. SeqWare Query Engine: storing and searching sequence data in the cloud

24. Comprehensive molecular characterization of human colon and rectal cancer

25. Organizing and running bioinformatics hackathons within Africa: The H3ABioNet cloud computing experience

26. Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencing

27. Developing reproducible bioinformatics analysis workflows for heterogeneous computing environments to support African genomics

29. Organizing and running bioinformatics hackathons within Africa: The H3ABioNet cloud computing experience

31. Comprehensive genomic characterization of squamous cell lung cancers

32. Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1

33. New insights into the Tyrolean Iceman's origin and phenotype as inferred by whole-genome sequencing

34. Abstract LB-245: Loss of function of the TGFβRI receptor leads to the spontaneously regressing squamous carcinoma condition, multiple self-healing squamous epithelioma (Ferguson-Smith disease)

35. Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1

38. Pathogenicity of a disease-associated human IL-4 receptor allele in experimental asthma

43. SeqWare Query Engine: storing and searching sequence data in the cloud.

44. Improving the efficiency of genomic loci capture usingoligonucleotide arrays for high throughput resequencing.

45. Author Correction: Mutations in PYCR1cause cutis laxa with progeroid features

46. Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

47. Sex differences in oncogenic mutational processes

48. Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

49. Pan-cancer analysis of whole genomes

50. Sex differences in oncogenic mutational processes

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