Genomic Variability: germline, somatic and de novo variants

SALINAS, V.; PEREZ MATURO, J.; KAUFFMAN M

Genome Plasticity in Health and Disease

Elsevier

Año: 2020; p. 63 - 77

There are not two equal human genomes in the world, even between the genomes of monozygotic twins is possible to find differences1. Moreover, our genome is not unique. We are many changing genomes during our lifetime2. This non-uniqueness rests on different types of genetic variants. Single nucleotide variants (SNV), copy number variants (CNV), inversions, translocations, microchimerism, revertant mosaicism are all names of this genomic divergence3,4. Has this variability arisen before us, it is called germline, inherited or seemingly de novo. Has it arisen after, it is called somatic mosaicism or true de novo. Two typical human genomes differ between them on a few millions of SNVs and a few hundreds of CNVs5, whereas two of our genomes might differ between them, albeit at a much lower rate, on SNVs, CNVs and other variations as well6. Our health depends on this massive amount of variability7.