Comparative overview of sequencing technologies. Small nucleotide variants (SNVs) defined as an alteration affecting a single nucleotide causing a variation in the DNA sequence copy number variants (CNVs) defined as stretches of DNA larger than 1 kilobase that displays copy number differences in the normal population (Heinrichsen Human Molecular Genetics). ∗Short read lengths require complex assembly and may produce inconsistent genetic mapping, especially around areas rich in guanosine cytosine content, displaying repetitive sequencing, or containing multiple homologous elements within the genome.