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

AsmVar is a new tool to discover, genotype and characterize different forms of structural variants and novel sequence in population-scale de novo assemblies at single nucleotide resolution.

Source: Epidemiologic Perspectives and Innovations - December 24, 2015 Category: Epidemiology Authors: Siyang LiuShujia HuangJunhua RaoWeijian YeThe Genome Denmark ConsortiumIIAnders KroghJun Wang Source Type: research