作者: Heidi L. Rehm
DOI: 10.1038/NRG3463
关键词: Computational biology 、 Human genome 、 Disease 、 Diagnostic evaluation 、 Biology 、 Genomics 、 Bioinformatics 、 Human genetics 、 Exome 、 Disease gene 、 Cornerstone
摘要: With the declining cost of sequencing and ongoing discovery disease genes, it is now possible to examine hundreds genes in a single disease-targeted test. Although exome- genome-sequencing approaches are beginning compete, testing retains certain advantages still holds firm place diagnostic evaluation. Here I current state clinical evaluate benefits challenges incorporating tests into patient care.