Research Article

Chromosome HeatMap in CDK Patients as Defined by Multiregional Sequencing on Illumina MiSeq Platform

Mohammad F. Fazaludeen
University of Eastern Finland, Finland
Aymen A. Warille
Ondokuz Mayis University, Turkey
Mohd Ibrahim Alaraj
University of Hail, Saudi Arabia
Edem Nuglozeh
Ondokuz Mayis University, Turkey
* Corresponding author
DOI icon 10.24018/ejmed.2020.2.6.525

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Submitted 2020-11-02
Published 2020-11-16

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Article Main Content

Renal failure and kidney disease are major concerns worldwide and are commonly coupled to diseases like hypertension, diabetes, obesity, and hypercholesterolemia. We undertook this study to explore the scope of genetic spectrum underlying the physiopathology of end-stage renal disease (ESRD) using whole exome sequencing (WES) on genomic DNA (gDNA) from 12 unrelated patients in younger ages. We have performed WES on 12 patients in stage of ESRD and analyze the FASTQ data through GATK pipeline. Here, we report for the first time a novel approach of establishing the severity and the magnitude of a disease on different chromosomes and associated karyotypes using chromosome Heatmap. The chromosome Heat will provide us with a road map to narrow down mutations selection leading us to SNPs characterization. Our preliminary results presented in the form of chromosomes HeatMap prelude our ongoing works which consist in identifying and characterizing new genes involved in the problem of renal diseases, results that depict the magnitude of the uncovered genes mutations and their biological implications related to the genome of these patients.

Keywords: Renal failure, Exome Sequencing, Chromosomes Heatmap

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