Search for dissertations about: "Gerard C.P. Schaafsma"

Found 1 swedish dissertation containing the words Gerard C.P. Schaafsma.

  1. 1. Tools and annotations for variation

    Author : Gerard C.P. Schaafsma; Proteinbioinformatik; []
    Keywords : Annotation; genetic variation; benchmarks; databases; disease groups; pathogenicity; proteins; representativeness; sensitivity; variant effect analysis;

    Abstract : Since the finishing of the Human Genome Project, many next-generation (NGS) or high-throughput sequencing platforms have emerged. One of the applications of NGS technology, variant discovery, can serve as a basis for precision medicine. READ MORE