Gemstone

14,000,000 Leading Edge Experts on the ideXlab platform

Scan Science and Technology

Contact Leading Edge Experts & Companies

Scan Science and Technology

Contact Leading Edge Experts & Companies

The Experts below are selected from a list of 4635 Experts worldwide ranked by ideXlab platform

Chunwu Zhou - One of the best experts on this subject based on the ideXlab platform.

Ho Taek Song - One of the best experts on this subject based on the ideXlab platform.

Haiyuan Yu - One of the best experts on this subject based on the ideXlab platform.

  • Gemstone orchestrated prioritization of human germline mutations in the cloud
    Nucleic Acids Research, 2017
    Co-Authors: Siwei Chen, Juan Felipe Beltran, Steven M Lipkin, Clara Estebanjurado, Sebastia Franchexposito, Sergi Castellvibel, Haiyuan Yu
    Abstract:

    : Integrative analysis of whole-genome/exome-sequencing data has been challenging, especially for the non-programming research community, as it requires simultaneously managing a large number of computational tools. Even computational biologists find it unexpectedly difficult to reproduce results from others or optimize their strategies in an end-to-end workflow. We introduce Germline Mutation Scoring Tool fOr Next-generation sEquencing data (Gemstone), a cloud-based variant prioritization tool with high-level customization and a comprehensive collection of bioinformatics tools and data libraries (http://Gemstone.yulab.org/). Gemstone generates and readily accepts a shareable 'recipe' file for each run to either replicate previous results or analyze new data with identical parameters and provides a centralized workflow for prioritizing germline mutations in human disease within a streamlined workflow rather than a pool of program executions.

  • Gemstone orchestrated prioritization of human germline mutations in the cloud
    bioRxiv, 2016
    Co-Authors: Siwei Chen, Juan Felipe Beltran, Steven M Lipkin, Clara Estebanjurado, Sebastia Franchexposito, Sergi Castellvibel, Haiyuan Yu
    Abstract:

    Integrative analysis of whole-genome/exome-sequencing data has been challenging, especially for the non-programming research community, as it requires leveraging an inordinate number of computational tools. Even computational biologists find it unexpectedly difficult to reproduce results from others or optimize their own strategies in an end-to-end workflow. We introduce Germline Mutation Scoring Tool fOr Next-generation sEquencing data (Gemstone), a cloud- based variant prioritization tool with high-level customization and a comprehensive collection of bioinformatics tools and data libraries (http://Gemstone.yulab.org/). Gemstone generates and readily accepts a sharable 'recipe' file for each run to either replicate existing results or analyze new data with identical parameters.

Jeanbaptiste Zerlauth - One of the best experts on this subject based on the ideXlab platform.

Zheng Zhu - One of the best experts on this subject based on the ideXlab platform.