Article

Mapping and phasing of structural variation in patient genomes using nanopore sequencing

2017-04-24

Abstract excerpt

Structural genomic variants form a common type of genetic alteration underlying human genetic disease and phenotypic variation. Despite major improvements in genome sequencing technology and data analysis, the detection of structural variants still poses challenges, particularly when variants are of high complexity. Emerging long-read single-molecule sequencing technologies provide new opportunities for detection...

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Literature Corpus work: 0bcdf649-75dd-5937-a363-14e0276ee704
DOI: 10.1101/129379

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