Bioinformatics

Genomic data analysis refers to the collection of methods and tools used to interpret the massive amount of data generated by next-generation sequencing (NGS) technologies, which have revolutionized biological research. Genomic data encompass a wide range of information, including DNA sequences, RNA transcripts, metagenomic samples, and epigenetic modifications.

The genome is the fundamental structure underlying heredity in organisms. Genomic information serves as a kind of library about the organism. In addition to directing essential biological functions of cells such as growth, development, and metabolism, the genome also contains non-coding DNA regions, regulatory regions, and repetitive sequences. The definition of a genome is not limited to DNA alone. In some organisms, genetic material exists in the form of RNA for example, in

DNA and protein sequences undergo changes over time due to mutations. To investigate these evolutionary or environmental mutations or to identify biologically meaningful regions such as evolutionary relationships or functional similarities two or more biological sequences are compared. In these comparisons, individual bases or specific patterns are searched for.

With the incredible advancements in biology and molecular genetics over the past century, a significant amount of genetic data has been generated and accumulated. Alongside technological progress, this large volume of genetic information has transformed into an interdisciplinary field—bioinformatics—that not only enables the processing and storage of these data but also makes them accessible for various users.

The genomic data analysis process involves multiple stages—from quality control of raw sequencing data to alignment, variant calling, functional interpretation, and final reporting. This article explains each step in detail, along with the tools, file formats, and how biological questions are translated into data-driven insights.

Bioinformatics is a multidisciplinary branch of science that deals with the analysis, storage and processing of biological data...

DNA sequencing is a basic technique used to understand genetic information and solve biological processes. It has a wide range of uses...

In this article, we discuss the most commonly used genomic databases, including NCBI, Ensembl, ClinVar, GTEx, and OMIM. We compare these databases in terms of the types of data they provide, methods of access, and their intended purposes.