Detalle de: Assembly of Non-Unique Insertion Content Using Next-Generation Sequencing

The genetic variation between two individuals may total as much as 8 Mb of sequence content [1]. These variations can vary in size, from single nucleotides up to entire Mb-sized segments of the genome. Variations at the nucleotide level are referred to as single-nucleotide polymorphisms (SNPs), while larger differences spanning an entire segment of the genome are called structural variations (SVs). Structural variations may include instances where a segment of genome is inserted, deleted or inverted in an individual genome. Identifying the variation between two individuals is an essential part of genetic studies. Knowing the content of these variations can help us answer questions such as whether an individual is susceptible to a disease, or why a drug may affect individuals differently. Numerous studies have shown a high correlation between SV and genetic disorders among individuals [2-4]. The variation between one individual (the donor) and another (the reference) is computed by collecting sequence data from the donor, then comparing this sequence to that of the reference. In practice, the reference is typically the NCBI human reference genome (hg17, hg18).