Reporting Clinical Genomic Assay Results and the Role of the Pathologist
作者： Janina A. Longtine
DOI: 10.1007/978-1-4939-0727-4_19
关键词: Laboratory results 、 Autism spectrum disorder 、 Clinical genomics 、 Disruptive technology 、 Normal karyotype acute myeloid leukemia 、 Professional association 、 Bioinformatics analysis 、 Pathology 、 Medicine
摘要: High-throughput sequencing is a disruptive technology that will significantly impact pathologists’ role in analyzing, interpreting, and reporting clinical laboratory results. Laboratory personnel must develop procedures policies for producing managing the vast amount of data, integrating bioinformatics analysis filters, annotating variants to create clear, informative, timely reports. Professional societies organizations are developing recommendations guidelines. This chapter delineates current challenges generating high-throughput reports emerging solutions.
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