Next generation sequencing for disease diagnosis

The introduction of new sequencing technologies in medicine has enabled the evaluation of frequent and rare variations in the human genome. Next Generation Sequencing (NGS), the genetic-based technology, is based on the simultaneous and harmonious processing of each part of a Deoxyribonucleic Acid (DNA) molecule, divided into millions of pieces from a single sample. Thus, NGS technology has begun to be used in the understanding of many neurological diseases and even in the reclassification of the diseases. To identify mutation carriers and analyze diseases, researchers tend to find a variety of gene identification methods. Today, NGS is emerging as a valuable and powerful platform for detecting gene-based diseases by entering the human genome. NGS technologies help to sequence DNA and Ribonucleic acid (RNA) faster and cheaper than previously used technologies. Aim of this study is that create an NGS pipeline to detect single nucleotide variants (SNP) and indels (insertion and deletions). In this study, a pipeline that creates the necessary files to help analysis is constructed. Using this pipeline, even users who are not familiar with this field can access the required files. Multiple Myeloma (MM) data was used to create the pipeline. MM is a malignant tumor of plasma cell characterized by overproduction of abnormal plasma cells in the bone marrow and skeletal destruction. DNA sequencing with the workflow generated using MM data was examined with quality assessment, alignment, separation of unnecessary genes, sort, merge, variant calling and variant annotation.