Welcome to Functional genomics page

The aim of functional genomics studies is to understand the complex relationship between genotype and phenotype on a global (genome-wide) scale. Studies investigate a range of processes such as transcription, translation and epigenetic regulation, in an attempt to answer relevant biological questions such as:

  • When and where are genes expressed?
  • How do gene expression levels differ in various cell types and states?
  • What are the functional roles of different genes and in what cellular processes do they participate?
  • How are genes regulated? Where are the active gene promoters in a particular cell type?
  • How do genes and gene products interact?
  • How does gene expression change in various diseases or following a treatment?
Important file formats:
Source Data
 Recommended File Formats
Sequence and base call quality data
 FASTQ and FASTA formats
Sequence alignment data
 SAM and BAM formats
Genome annotations  GTF, GFF and BED format
Dense continuous data (e.g. %GC)  WIG and bigWig

Bioinformatics Modules

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Introduction to NGS

Next-generation sequencing (NGS), also known as high-throughput sequencing, is the catch-all term used to describe a number of different modern sequencing technologies. It is being widely used over sanger sequencing, due to the speed, cost, accuracy, as well as the sample size, compared to the high throughput of data generated

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Quality control of NGS data: Read trimming and Adapter removal

Functional genomics is a field of molecular biology that attempts to make use of the vast wealth of data produced by genomic and transcriptomic projects (such as genome sequencing projects and RNA-seq) to describe gene (and protein) functions and interactions.

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Read Mapping to reference

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De Novo assembly of reads

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Processing output using SAMTOOLS

Functional genomics is a field of molecular biology that attempts to make use of the vast wealth of data produced by genomic and transcriptomic projects (such as genome sequencing projects and RNA-seq) to describe gene (and protein) functions and interactions.