Signature of Chromosomes Instability in Different Diseases as Accessed on Illumina Miseq Platform using Depth of Coverage Metrics for Variant Evaluation by GATK

Edem Nuglozeh

Abstract: Next-generation sequencing (NGS) has been widely applied to clinical diagnosis. Target-gene capture followed by deep sequencing provides unbiased enrichment of the target sequences, which not only accurately detects single-nucleotide variations (SNVs) and small insertion/deletions (indels) but also provides the opportunity for the identification of exonic copy-number variants (CNVs) and large genomic rearrangements. The use of NGS allow to directly distinguish the underlying causative diseases genes via a systematic filtering, in which the identified gene variants are checked for novelty and diseases association. This maneuver is possible, provided that, we reach proper depth of coverage metrics during sequencing. Here we use the depth of coverage metrics to assess genome stability in different diseases. Our results confirm other results observed in the past about genome instability and rearrangement in multiple cancers while shedding the light about chromosome instability in hypercholesterolemia.

Keywords: Exome sequencing, Depth of Coverage, Chromosomes Instability, Oligonucleotides binding