The human genome contains around 3 billion base pairs nucleotide, and the huge quantity of data created necessitates the development of an accessible tool to explore and interpret this information in order to investigate the genetic basis of disease, evolution, and biological processes.
It was created with the aim of providing a complete resource for the human genome sequence, with focus on gene annotation.
It supports a wide range of file formats and provides advanced tools for data analysis.
These tools facilitate exploration and interpretation of complex genomic data in a graphical format.
Additionally, it provides access to numerous publicly available datasets for comparative genomics research.
This enables researchers to study evolutionary relationships, identify conserved regions, and compare gene orthologs.
The box at the bottom highlighted in red shows the customizable options such as BLAST, track by accession, assembly details, history, and tracks/user data.
Each track represents a unique genomic feature such as genes, transcripts, regulatory region, or sequence variations.
Aside from gene annotations, genome browsers can display a variety of different data types, such as: DNA Sequence: This can be shown as a single linear track or as several tracks, with different colors signifying distinct features (for example, exons, introns, and repetitions).
Variation Data: This includes information on Single-nucleotide polymorphism (SNPs), insertions/deletions (indels), and structural variants.
Transcriptomics: This contains information on gene expression levels, alternative splicing, and non-coding RNAs.
Proteomics: This includes information on protein expression levels, post-translational modifications, and protein-protein interactions.
By examining the genome of a patient, researchers can identify genetic mutation that may be responsible for the disease.