A Genome is the entire DNA of an organism. The human genome has about 3 billion base pairs, distributed among 23 chromosomes.
L’esoma è l’insieme di tutte le porzioni del genoma che “codificano” per proteine. In sintesi il DNA presente nell'esoma è la "Mappa" che la cellula utilizza per produrre correttamente le proteine che sono fondamentali per la struttura della cellula e per lo svolgimento delle sue funzioni.
Even if this is about 1% of your DNA and 20,000 genes, that's where about 85% of the mutations occur.
The chromosome is a structure of nucleic acids and protein found in the nucleus of most living cells. It holds your hereditary information and it is formed but a double helix of DNA.
Humans have 23 couples of chromosomes. Each couple has a chromosomes coming from the father and one from the mother.
DNA (deoxyribonucleic acid) is the the carrier of genetic information.
It is formed by a double helix of nucleotides (adenine, cytosine, guanine, and thymine). Their order is what makes us all different from each other.
The word gene comes from the greek word "genos" that means origins. It represents specific sequences of DNA in our chromosomes that have a specific goal or are the reason why we have different traits, such as our eye colour.
The phenotype of an organism is the set of observable characteristics or traits, resulting from the interaction of its genotype with the environment.
At Genesy we aim to create a large phenotype to better understand your DNA, including data about your environment and your medical history, if you decide to share that information with us.
A human body normally contains millions of variants that makes us unique. The most commons are SNP that represent variations of a single nucleotide. SNP's are identified and correlated to eye colours, body type etc. Other variants are what studies consider predispositions to genetic disorders.
However, the consequences of most variants are still unknown and that's what you can help Genesy discover.
Once your DNA will be extracted from your saliva, it is sequenced and its letters are listed and saved, ready to be analysed to understand variants. The progress in DNA sequencing reduced costs and sequencing time, improving accuracy at the same time.
Genotyping is the most economic sequencing method, which compares your DNA to "standard" in about 500,000 to 1,000,000 different points to identify variants.
Exome sequencing is a deeper sequencing analysis, which covers the entire exome and can reveal information not available in genotyping.
Whole Genome Sequencing is the sequencing of the entire human genome, and covers even the non-coding regions of your DNA. It allows medical research firms to understand parts of your DNA that were recently unknown.