Discovery, genotyping and characterization of structural variation and novel sequence at single nucleotide resolution from de novo genome assemblies on a population scale

• Published in: Gigascience Vol. 4; no. 1; p. 64
• Main Authors: Liu, Siyang, Huang, Shujia, Rao, Junhua, Ye, Weijian, Krogh, Anders, Wang, Jun
• Format: Journal Article
• Language: English
• Published: United States Oxford University Press 24.12.2015; BioMed Central
• Subjects: Genetic Variation; Genome, Human; Genomics - methods; Genotype; High-Throughput Nucleotide Sequencing - methods; Humans; Sequence Analysis - methods; Software; Technical Note; Structural variation; de novo assembly; Novel sequence

Comprehensive recognition of genomic variation in one individual is important for understanding disease and developing personalized medication and treatment. Many tools based on DNA re-sequencing exist for identification of single nucleotide polymorphisms, small insertions and deletions (indels) as...