DNA sequencing is a laboratory method used to determine the order of the bases within the DNA and it comes in many forms. As a method, DNA sequencing can be used for small, targeted regions or the entire genome through a variety of methods, allowing researchers to investigate and better understand health and disease.
In a few words, DNA seq-analysis can help understand the effects of genetic variation and mutations. In medicine, DNA sequencing is used for diagnosis and treatment of diseases, allowing healthcare practitioners to establish if a gene or the region that regulates a gene contains changes, called variants or mutations, that are linked to a disorder.
At KonAnBio we are undertaking routinely DNA sequence data for various research projects. If you are interested to learn how we can help you to get the most out of your DNA-seq, drop us an email or leave us a message, and we will get back to you.
Variant analysis
One of the most frequent uses of the DNA Seq is identification and analysis of genetic variants. Using Whole Genome, Whole Exome or targeted sequencing data, changes in the DNA sequence like single nucleotide polymorphisms, insertions, deletions and copy-number alterations or structural variants can be identified.
The variant can be divided into germline variant analysis, allowing for identification of genotypes, and somatic variant calling, allowing for identification of genetic mosaicism between cells.
In cancer, variant analysis can be used to identify somatic mutations that can accelerate driver mutations, diagnose a patient or predict their course of disease
In variant analysis is crucial to annotate the detected variants. By annotating, we can predict
both effects on protein structure or gene regulation and pathogenicity.
Genome-wide association analysis
A genome-wide association analysis is used to identify genomic variants that are statistically associated with a risk for a disease or a particular trait. The method consists in surveying the genomes of many people, and its purpose is to look for genomic variants that occur more frequently in individuals with a specific disease or trait compared to individuals who do not have disease or trait.
GWASare based on SNP-array or DNA-sequencing data from biobanks or other large repositories, and their aim is to identify genes and variants associated with relevant phenotypes or diseases.
Genome assembly
A genome assembly is a computational representation of a genome sequence. In bioinformatics, genome assembly is the process of putting a large number of short DNA sequences back together to recreate the original chromosomes from which the DNA originated. The genome assembly can be divided into two types: de novo assembly and mapping to a reference genome.
Genome annotation and re-annotation
Genome annotation defines functional elements such as genes within the sequence of a genome. When the annotation of many genomes becomes outdated, then a re-annotation process takes place using a combination of DNA- as well RNA-seq data.