Article

Expectations and blind spots for structural variation detection from short-read alignment and long-read assembly

2020-07-04

Abstract excerpt

Virtually all genome sequencing efforts in national biobanks, complex and Mendelian disease programs, and emerging clinical diagnostic approaches utilize short-reads (srWGS), which present constraints for genome-wide discovery of structural variants (SVs). Alternative long-read single molecule technologies (lrWGS) offer significant advantages for genome assembly and SV detection, while these technologies are curre...

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Literature Corpus work: dc4d94e2-a05e-539b-900a-8e2c9ee7bf7c
DOI: 10.1101/2020.07.03.168831

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