DNA Sequence Analysis in Clinical Medicine, Proceeding Cautiously.

ABSTRACT: Delineation of underlying genomic and genetic factors in a specific disease may be valuable in establishing a definitive diagnosis and may guide patient management and counseling. In addition, genetic information may be useful in identification of at risk family members. Gene mapping and initial genome sequencing data enabled the development of microarrays to analyze genomic variants. The goal of this review is to consider different generations of sequencing techniques and their application to exome sequencing and whole genome sequencing and their clinical applications. In recent decades, exome sequencing has primarily been used in patient studies. Discussed in some detail, are important measures that have been developed to standardize variant calling and to assess pathogenicity of variant

SUBMITTER: Smith M 

PROVIDER: S-EPMC5413496 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature