Bioinformatics Tools in Clinical Genomics
作者： David K. Crockett , Karl V. Voelkerding
DOI: 10.1007/978-1-4939-0727-4_13
关键词: Genome Biology 、 Bioinformatics 、 Clinical genomics 、 Massively parallel 、 The Renaissance 、 DNA sequencing 、 Exome sequencing 、 Genomics 、 Computer science 、 Computational biology
摘要: The field of DNA sequencing began a transformational shift in 2005 with the introduction first high throughput, massively parallel platform that ushered era “next generation sequencing.” Initially, next (NGS) platforms generated millions bases per instrument run which steadily progressed to now routine outputs billions bases. These unprecedented data volumes have driven renaissance bioinformatics research and development resulting proliferation open-source commercial algorithms software support computational processing, analysis, interpretation NGS results. efforts facilitated broad dissemination into every facet biomedical more recently various clinical diagnostic applications from multi-gene panels exome whole-genome (WGS).
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