DNA Sequence Analysis in Clinical Medicine, Proceeding Cautiously

Frontiers in Molecular Biosciences
Moyra Smith

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 variants. Examples of cases where exome sequencing has facilitated diagnosis and led to improved medical management are presented. Whole genome sequencing and its clinical relevance are presented particularly in the context of analysis of nucleotide and structural genomic variants in large population studies and in certain patient cohorts. Applications involving analysis of cell free DNA in maternal blood for prenatal diagnosis of specific autosomal ...Continue Reading

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Methods Mentioned

BETA
electrophoresis
exome sequencing
genotyping
biopsy
lipidation
protein folding
nucleic acid sequencing

Software Mentioned

MinKNOW
Agilent sure select
Metrichor
ClinVar
Fast
BioNano Irys

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