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1. 1. Tools and annotations for variation

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

   Sammanfattning : 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. LÄS MER